0:00:00.000,0:00:04.000
(Narrator) When I look at this, and these [br]are 3 billion

0:00:04.000,0:00:07.020
chemical letters. Instructions for a human

0:00:07.020,0:00:09.650
being, my eyes glaze over,

0:00:09.650,0:00:10.370
(laughing)

0:00:10.370,0:00:12.570
but when scientist, Eric Lander looks at

0:00:12.570,0:00:14.740
this, he sees stories.

0:00:15.684,0:00:18.274
(Eric) The genome is a storybook

0:00:18.274,0:00:20.444
that's been edited for a couple billion

0:00:20.444,0:00:23.584
years, and you couldn't take it

0:00:23.604,0:00:25.804
to bed like a 1,001 Arabian nights and

0:00:25.804,0:00:27.924
read a different story in the genome

0:00:27.924,0:00:30.034
every night.

0:00:30.034,0:00:32.074
(Narrator) This is the story of one of

0:00:32.074,0:00:35.434
the greatest scientific adventures ever.

0:00:35.434,0:00:38.124
And at the heart of it, is a small, very

0:00:38.130,0:00:42.130
powerful molecule, DNA.

0:00:43.688,0:00:45.548
For the past ten years, scientists

0:00:45.548,0:00:47.578
all over the world have been painstakingly

0:00:47.578,0:00:49.958
trying to read the tiny instructions

0:00:49.958,0:00:52.538
buried inside our DNA.

0:00:52.538,0:00:55.108
And now, finally, the human genome has

0:00:55.108,0:00:56.228
been decoded.

0:00:56.938,0:00:58.958
(Craig) We're at the moment the scientists[br]

0:00:58.958,0:01:00.978
wait for. This is what we wanted to do.

0:01:00.978,0:01:03.358
We're now examining

0:01:03.358,0:01:06.668
and interpreting the genetic code.

0:01:06.668,0:01:09.308
(Francis) This is the ultimate

0:01:09.308,0:01:11.408
imaginable thing that one could do,

0:01:11.408,0:01:13.738
scientifically, is to go look at our

0:01:13.738,0:01:15.398
own instruction book, and then try

0:01:15.398,0:01:17.418
to figure out what it's telling us.

0:01:17.418,0:01:19.720
(Narrator) What it's telling us is so

0:01:19.720,0:01:22.910
surprising, and so strange, and so

0:01:22.910,0:01:24.470
unexpected.

0:01:24.470,0:01:27.640
(Narrator) 50% of the genes in a banana

0:01:27.640,0:01:30.140
are in us.[br](Eric) How different are you from a banana

0:01:30.140,0:01:31.650
I feel like I can say this with

0:01:31.650,0:01:33.390
some authority, very different

0:01:33.390,0:01:35.820
from a banana.[br](Eric) You may feel different from a

0:01:35.820,0:01:36.550
banana.

0:01:36.550,0:01:40.170
All the machinery for replicating your[br]DNA, all the machinery for controlling

0:01:40.170,0:01:46.460
the cell-cycle, the cell surface, for[br]making nutrients, all that's the same.

0:01:47.024,0:01:49.914
(Narrator) So what does any of this[br]information have to do

0:01:49.914,0:01:52.944
with you, or me? Perhaps more than we

0:01:52.944,0:01:55.084
could possibly imagine.

0:01:55.084,0:01:59.314
Which one of us will get cancer, or[br]arthritis, or Alzheimer's.

0:02:00.234,0:02:05.174
Will there be cures? Will parents in the[br]future, be able to determine their

0:02:05.174,0:02:06.964
children's genetic destinies.

0:02:07.523,0:02:09.223
(Eric) We've opened the box here

0:02:09.223,0:02:12.923
that's got a huge amount of valuable [br]information.

0:02:12.923,0:02:16.553
It is the key to understanding disease

0:02:16.553,0:02:19.813
and, in the long run, to curing disease.

0:02:19.813,0:02:22.573
But having opened it... we're also gonna

0:02:22.573,0:02:24.303
be very uncomfortable with that info

0:02:24.303,0:02:25.903
for some time to come.

0:02:26.165,0:02:27.755
(Narrator) Yes, some of the info

0:02:27.755,0:02:29.355
you're about to see will make you

0:02:29.355,0:02:31.895
very uncomfortable, on the other hand,[br]some of it, I

0:02:31.895,0:02:34.415
think you will find amazing and hopeful.

0:02:34.415,0:02:36.465
I'm Robert Krulwich, and tonight, we will

0:02:36.465,0:02:38.465
not only report the latest discoveries of

0:02:38.465,0:02:40.465
the Human Genome Project, you will meet

0:02:40.465,0:02:42.365
the people who made those discoveries

0:02:42.365,0:02:45.325
possible, and who competed furiously to

0:02:45.325,0:02:47.645
be first to be done. And as you watch

0:02:47.645,0:02:49.405
our program on the human genome,

0:02:49.405,0:02:51.435
We will be raising a number of issues,

0:02:51.435,0:02:54.935
genes and privacy, genes and corporate[br]profits,

0:02:54.935,0:02:57.515
genes and the odd similarity between you

0:02:57.515,0:02:59.575
and yeast. And we'd like to have your

0:02:59.575,0:03:01.655
thoughts on all these subjects, so please,

0:03:01.655,0:03:04.775
if you will, login to Nova's website. It's

0:03:04.775,0:03:08.015
located at PBS.org. It'll be there[br]after the

0:03:08.015,0:03:10.445
broadcast, so do it after the [br]broadcast,

0:03:10.445,0:03:12.995
where you can take a survey, [br]the results will

0:03:12.995,0:03:15.145
be immediately available and continually

0:03:15.145,0:03:18.155
updated. We'll be right back.

0:03:18.155,0:03:38.055
♪ (Intro music playing) ♪

0:03:38.055,0:03:40.295
(Man) Major funding for Nova is provided

0:03:40.295,0:03:44.295
by the Park Foundation, dedicated [br]to education

0:03:44.295,0:03:47.665
and quality television.

0:03:47.778,0:03:49.928
(Man) This program is funded, in-part, by

0:03:49.928,0:03:53.458
the Northwestern Mutual Foundation.

0:03:53.458,0:03:56.748
Some people already know, Northwestern[br]Mutual can help plan

0:03:56.748,0:03:58.298
for your children's education.

0:03:58.397,0:03:59.777
Are you there yet?

0:03:59.777,0:04:03.217
Northwestern Mutual Financial Network.

0:04:06.104,0:04:08.844
(Woman) Scientific achievement is fueled

0:04:08.844,0:04:14.314
by the simple desire to make things clear.

0:04:14.574,0:04:18.394
Sprint PCS is proud to support Nova.

0:04:18.394,0:04:20.794
(Man) Major funding for this program is

0:04:20.794,0:04:24.594
provided by, "The National Science[br]Foundation."

0:04:24.594,0:04:28.104
- America's investment in the future.

0:04:28.104,0:04:31.744
(Man) And by the Corporation For Public[br]Broadcasting

0:04:31.744,0:04:34.304
and by contributions to your PBS station

0:04:34.304,0:04:35.904
from viewers like you.

0:04:35.904,0:04:39.904
Thank you.

0:04:57.670,0:05:02.590
(Narrator) To begin, let's go back [br]4-and-some billion years ago

0:05:02.590,0:05:06.990
to wherever it was that the first speck of

0:05:06.990,0:05:09.930
life appeared on Earth.

0:05:09.930,0:05:14.140
Maybe on the warm surface of a bubble.

0:05:14.731,0:05:18.801
That speck did something that's gone on,[br]uninterrupted ever since.

0:05:18.828,0:05:21.068
It wrote a message. It was a chemical

0:05:21.068,0:05:23.088
message, that it passed to its children

0:05:23.088,0:05:25.108
and passed it on to its children, and

0:05:25.108,0:05:28.228
to its children, and so on.

0:05:31.009,0:05:34.179
The message has passed from the very first

0:05:34.179,0:05:38.899
organism, all the way down through time, [br]to you and me.

0:05:41.070,0:05:43.820
Like a continuous thread, through all

0:05:43.820,0:05:47.820
living things.

0:05:49.271,0:05:51.351
It's more elaborate, now, of course, but

0:05:51.351,0:05:53.891
that message is, very simply, is the

0:05:53.891,0:05:57.891
secret of life.

0:06:08.253,0:06:10.453
And here is that message, contained in

0:06:10.453,0:06:12.213
this stunning little constellation of

0:06:12.213,0:06:15.243
chemicals, we call, "DNA".

0:06:15.261,0:06:17.181
You've seen it in this form, the classic

0:06:17.181,0:06:19.301
"Double Helix", but since we're gonna be

0:06:19.301,0:06:21.021
spending a lot of time talking about

0:06:21.021,0:06:23.901
DNA, I wondered what it looks like when

0:06:23.901,0:06:26.251
it's raw, ya know, in real life?

0:06:26.251,0:06:28.651
So, I asked an expert.

0:06:29.288,0:06:31.468
Eric Lander - DNA has a reputation for

0:06:31.468,0:06:34.308
being such a mystical, highfalutin sort of

0:06:34.308,0:06:36.428
molecule. All this information, your

0:06:36.428,0:06:39.628
future, your heredity, it's actually goop.

0:06:39.628,0:06:42.068
See, this here is DNA.

0:06:42.068,0:06:43.858
(Narrator) Professor Eric Lander is a

0:06:43.858,0:06:46.708
geneticist at MIT's Whitehead Institute.

0:06:46.708,0:06:49.848
(Eric) It's very very long strands of

0:06:49.848,0:06:55.528
molecules. These double helices of DNA, [br]which, when you get them all

0:06:55.528,0:06:59.208
together, just look like little threads[br]of cotton.

0:06:59.398,0:07:00.978
(Narrator) And these strands were

0:07:00.978,0:07:04.978
literally pulled from cells. Blood[br]cells, maybe skin cells, of a human being.

0:07:05.436,0:07:07.896
Eric - Whoever contributed this DNA,

0:07:07.896,0:07:09.926
you can tell from this whether or not they

0:07:09.926,0:07:11.766
might be at early risk for Alzheimer's

0:07:11.766,0:07:13.896
disease. You can tell if they might be at

0:07:13.896,0:07:15.886
early risk for breast cancer.

0:07:15.886,0:07:17.736
And there's probably about 2,000 other

0:07:17.736,0:07:19.596
things you can tell, that we don't know

0:07:19.596,0:07:21.226
how to tell yet, but we'll be able

0:07:21.226,0:07:24.336
to tell. And it's, really, incredibly[br]unlikely that you could tell

0:07:24.336,0:07:25.496
all that from this.

0:07:25.496,0:07:28.236
But, that's DNA for you.

0:07:29.297,0:07:31.417
That, apparently, is the secret of life,

0:07:31.417,0:07:34.197
just hanging off there on the tube.

0:07:34.227,0:07:36.267
(Narrator) And already, DNA has told

0:07:36.267,0:07:39.917
us things that no one, no one had[br]expected.

0:07:39.917,0:07:42.137
It turns out that human beings have only

0:07:42.137,0:07:45.647
twice as many genes as a fruit fly.

0:07:45.647,0:07:47.407
Now how can that be?

0:07:47.407,0:07:52.647
We are such complex and magnificent[br]creatures, and fruit flies, well, uh,

0:07:52.647,0:07:54.547
they're fruit flies.

0:07:54.547,0:08:00.447
DNA also tells us that we are more closely[br]related to worms and to yeast than

0:08:00.447,0:08:03.487
most of us would ever have imagined.

0:08:03.487,0:08:08.947
But how do you read what's inside a[br]molecule?

0:08:08.947,0:08:12.473
Well, if it's DNA, if you turn it so you

0:08:12.473,0:08:15.293
can look at from just the right angle,

0:08:15.293,0:08:17.593
you will see, in the middle, what

0:08:17.593,0:08:20.883
look like steps in a ladder.

0:08:20.883,0:08:22.903
Each step is made up of two chemicals,

0:08:22.903,0:08:27.223
"Cytosine" and "Guanine", or[br]"Thymine" and "Adenine".

0:08:27.223,0:08:34.503
They come, always, in pairs called,[br]"Base-Pairs" either C and G, or T and A,

0:08:34.503,0:08:36.363
for short.

0:08:36.363,0:08:39.193
This is, step-by-step, a code.

0:08:39.193,0:08:42.823
Three-billion steps long; the formula for

0:08:42.823,0:08:46.823
a human being.

0:08:46.823,0:08:50.093
We're all familiar with this thing.

0:08:50.093,0:08:52.153
This shape is very familiar.

0:08:52.153,0:08:54.293
(Eric) Double Helix.[br](Narrator) Double Helix.

0:08:54.293,0:08:56.053
First of all, I want to... this is my

0:08:56.053,0:08:57.493
version of a DNA molecule.

0:08:57.493,0:08:59.573
Is this, by the way, what it looks like?

0:08:59.573,0:09:02.373
(Eric) Well, ehm, give or take... a[br]cartoon version of it.

0:09:02.373,0:09:04.673
I mean, a little like that, yeah.

0:09:04.673,0:09:08.983
(Narrator) So there are, in almost every [br]cell in your body, if you look deep

0:09:08.983,0:09:11.633
enough, you will find this chain here?

0:09:11.633,0:09:13.993
Eric - Oh, yes, stuck in the nucleus of[br]your cell.

0:09:13.993,0:09:16.273
Narrator - Now how small is this?

0:09:16.273,0:09:18.623
In a real DNA molecule, the distance

0:09:18.623,0:09:20.703
between the two walls is how wide?

0:09:20.703,0:09:22.573
Eric - Oh, golly.

0:09:22.573,0:09:24.873
(Narrator) Look at this, he's asking for[br]help.

0:09:24.873,0:09:25.973
(laughing)

0:09:25.973,0:09:31.013
Eric -This distance is about [br]10 Angstroms.

0:09:31.013,0:09:33.183
(Narrator) That's one-billionth of a meter

0:09:33.183,0:09:35.383
when it's clumped up in a very particular[br]way.

0:09:35.383,0:09:38.953
Eric - Well, no, it's curled up sort of[br]like that, but, it's more than that.

0:09:38.953,0:09:42.213
You can't curl it up too much, bc[br]these little negative charge things

0:09:42.213,0:09:44.513
will repel each other. So, you fold it on[br]itself.

0:09:44.513,0:09:46.023
I'm gonna break your molecule..

0:09:46.023,0:09:48.003
Narrator - Yeah, don't break my molecule.

0:09:48.003,0:09:50.863
Eric - Ya know, ya got this[br]and then it's folded up like this

0:09:50.863,0:09:52.623
and then those are folded up on top

0:09:52.623,0:09:54.563
of each other. And, so, in fact, if you

0:09:54.563,0:09:56.433
were to stretch out all of the DNA, it

0:09:56.433,0:09:58.743
would run, oh I don't know, thousands

0:09:58.743,0:10:00.223
and thousands of feet.

0:10:00.223,0:10:01.013
Narrator - Okay.

0:10:01.013,0:10:02.413
The main thing about this, is

0:10:02.413,0:10:04.183
the ladder, the steps of this ladder.

0:10:04.183,0:10:08.233
Narrator - If I knew it was "A" and "T"[br]and "C" and "C" and "G" and "G" and "A"...

0:10:08.233,0:10:12.203
Eric - Oh, no, it's not "'G' and 'G', it's[br]'G' and 'C'. It's the grammar...

0:10:12.203,0:10:14.623
Narrator - If I could read each of the

0:10:14.623,0:10:17.413
individual ladders, I might find the

0:10:17.413,0:10:19.533
picture of... what?

0:10:19.533,0:10:20.873
Eric - Of your children.

0:10:20.873,0:10:22.773
This is what you pass to your children.

0:10:22.773,0:10:26.623
Ya know, people have known for 2,000[br]years that your kids look a lot

0:10:26.623,0:10:29.223
like you. Well, it's because you must pass

0:10:29.223,0:10:31.413
them something... Some instructions that

0:10:31.413,0:10:33.213
give them the eyes they have and hair

0:10:33.213,0:10:35.533
they have, and the nose shape they do.

0:10:35.533,0:10:37.343
The only way you pass it to them is in

0:10:37.343,0:10:40.213
these sentences. That's it.

0:10:40.213,0:10:42.313
(Narrator) And to show you the true power

0:10:42.313,0:10:44.223
of this molecule, we're gonna start with

0:10:44.223,0:10:46.743
one atom, deep inside.

0:10:46.743,0:10:50.743
We pull back and see it form its "A"'s and[br]"T"'s and "C"'s and "G"'s and the

0:10:50.743,0:10:55.513
classic double spiral....

0:10:59.503,0:11:02.193
And then starts the mysterious process

0:11:02.193,0:11:06.193
that creates a healthy new baby.

0:11:06.193,0:11:35.033
♪ (music playing) ♪

0:11:46.228,0:11:48.518
And the interesting thing is that every

0:11:48.518,0:11:53.438
human baby, every baby born, is 99.9%

0:11:53.438,0:11:56.358
identical in it's genetic code to every

0:11:56.358,0:11:58.428
other baby.

0:11:58.428,0:12:01.708
So, the tiniest differences in our genes

0:12:01.708,0:12:03.718
can be hugely important.

0:12:03.718,0:12:05.658
Can contribute to differences in height,

0:12:05.658,0:12:08.978
physique, maybe even talents, aptitudes,

0:12:08.978,0:12:12.558
and it also explain what can break...

0:12:12.558,0:12:17.038
What can make us sick.

0:12:17.038,0:12:19.158
Cracking the code of those minuscule

0:12:19.158,0:12:21.698
differences in DNA, that influence health

0:12:21.698,0:12:25.698
and illness, is what the Human Genome[br]Project is all about.

0:12:27.488,0:12:30.838
Since 1990, scientists all over the world

0:12:30.838,0:12:32.658
in university and government labs have

0:12:32.658,0:12:34.918
been involved in a massive effort to read

0:12:34.918,0:12:38.488
all three-billion A's, T's, G's, and C's

0:12:38.488,0:12:39.968
of human DNA.

0:12:39.968,0:12:41.838
They predicted it would take, at least

0:12:41.838,0:12:48.258
15 years. That was partly because, in the[br]early days of the project,

0:12:48.258,0:12:51.238
a scientist could spend years, an entire

0:12:51.238,0:12:54.008
career, trying to readjust a handful of

0:12:54.008,0:12:56.048
letters in the human genome.

0:12:56.048,0:12:59.408
It took 10 years to find the one genetic

0:12:59.408,0:13:02.478
mistake that causes Cystic Fibrosis.

0:13:02.478,0:13:04.598
Another 10 years to find the gene for

0:13:04.598,0:13:06.368
Huntington's Disease.

0:13:06.368,0:13:09.248
15 years to find one of the genes that

0:13:09.248,0:13:12.048
increase the risk for breast cancer.

0:13:12.048,0:13:16.728
One letter at a time, painfully slowly,

0:13:16.728,0:13:21.248
frustratingly prone to mistakes, and

0:13:21.248,0:13:23.718
false leads.

0:13:23.718,0:13:26.538
We asked Robert Waterston, a pioneer in

0:13:26.538,0:13:28.238
mapping DNA, to show us the way it

0:13:28.238,0:13:29.878
used to be done.

0:13:29.878,0:13:32.228
(Robert) The original ladders for DNA

0:13:32.228,0:13:35.888
sequence, we actually read by putting a

0:13:35.888,0:13:38.158
little letter next to the band that we

0:13:38.158,0:13:40.348
were calling and then writing those

0:13:40.348,0:13:42.228
down on a piece of paper, or into the

0:13:42.228,0:13:44.378
computer after that.

0:13:44.378,0:13:46.888
Uh, it's horrendous.

0:13:46.888,0:13:48.798
(Narrator) And we haven't mentioned the

0:13:48.798,0:13:52.798
hardest part. This part here, magnified[br]50 thousand times, is an actual

0:13:52.798,0:13:56.668
clump of DNA Chromosome -17.

0:13:56.668,0:13:58.578
If you look inside, you find, of course,

0:13:58.578,0:14:03.218
hundred of millions of A's, and C's, and[br]T's, and G's, but it turns out

0:14:03.218,0:14:07.218
that only about 1% of them are active

0:14:07.218,0:14:09.498
and important. These are the genes

0:14:09.498,0:14:11.168
that scientists are searching for.

0:14:11.168,0:14:13.318
So, somewhere in this dense chemical

0:14:13.318,0:14:15.438
forest, are genes involved in deafness,

0:14:15.438,0:14:19.438
Alzheimer's, cancer, cataracts, but where?

0:14:19.438,0:14:23.438
This is such a maze, scientists need a[br]map.

0:14:23.438,0:14:25.638
But at the old pace, that would take close

0:14:25.638,0:14:28.638
to forever.

0:14:28.638,0:14:32.638
And then came the revolution.

0:14:33.781,0:14:36.231
In the last 10 years the entire process

0:14:36.231,0:14:39.821
has been computerized, that costed

0:14:39.821,0:14:43.821
hundreds of millions of dollars.

0:14:44.826,0:14:46.986
But now, instead of decoding only a few

0:14:46.986,0:14:50.326
hundred letters by hand in a day...

0:14:50.430,0:14:54.430
together, these machines can do 1,000[br]every second.

0:14:55.111,0:14:59.111
And that has made all the difference.

0:14:59.111,0:15:00.951
(Man) This is something that is gonna

0:15:00.951,0:15:02.951
go in the textbooks. Everybody knows[br]that.

0:15:02.951,0:15:04.941
Everybody, when the Genome Project was

0:15:04.941,0:15:08.741
being born, was consciously aware of their

0:15:08.741,0:15:10.581
role in history.

0:15:10.581,0:15:15.731
(Narrator) Getting the letters out is, has[br]been described as, finding the

0:15:15.731,0:15:18.391
blueprint of a human being, finding

0:15:18.391,0:15:20.721
the manual for a human being,

0:15:20.721,0:15:24.111
finding the code of a human being.

0:15:24.111,0:15:25.631
What's your metaphor?

0:15:25.631,0:15:28.731
Eric - Oh, golly gee. I mean, you can have

0:15:28.731,0:15:30.731
very highfalutin metaphors for this kind

0:15:30.731,0:15:33.301
of stuff. This is basically a parts list.

0:15:33.301,0:15:35.261
Blueprints and all these fancy names...

0:15:35.261,0:15:36.671
it's just a parts list.

0:15:36.671,0:15:39.551
It's just a parts list with a lot of[br]parts.

0:15:39.551,0:15:42.121
If you take an airplane, a Boeing 777,

0:15:42.121,0:15:44.031
I think it has like a hundred-thousand

0:15:44.031,0:15:46.231
parts. If I gave you a parts list for the

0:15:46.231,0:15:48.951
Boeing 777, in one sense you'd know a

0:15:48.951,0:15:50.591
lot. You'd know a hundred-thousand

0:15:50.591,0:15:52.311
components that have gotta be there.

0:15:52.311,0:15:54.171
Screws and wires and rudders and things

0:15:54.171,0:15:56.731
like that. On the other hand, I bet you

0:15:56.731,0:15:58.681
wouldn't know how to put it together and

0:15:58.681,0:16:00.601
I bet you wouldn't know why it flies.

0:16:00.601,0:16:02.441
Well, we're in the same boat... We now

0:16:02.441,0:16:05.601
have a parts list. That's what The Human [br]Genome Project is about.

0:16:05.601,0:16:07.241
It's about getting the parts list.

0:16:07.241,0:16:09.001
If you want to understand the plane,

0:16:09.001,0:16:10.781
you have to have the parts list, but

0:16:10.781,0:16:12.501
that's not enough to understand why

0:16:12.501,0:16:14.431
it flies. But, of course, you'd be crazy

0:16:14.431,0:16:16.071
not to start with the parts list.

0:16:16.071,0:16:19.291
And one reason it’s so important [br]to understand all those parts is

0:16:19.291,0:16:22.391
to decode every letter of the genome,

0:16:22.391,0:16:28.341
Is because sometimes out of 3 billion base[br]pairs in our DNA, just one single letter

0:16:28.341,0:16:32.341
can make a difference.

0:16:36.069,0:16:40.069
Alice and Tim Lord are parents of [br]two-year-old Hayden,

0:16:40.569,0:16:44.569
Alice – good morning[br]Tim – hey pumpkin

0:16:47.558,0:16:51.558
(Tim) – the two things that I think of the [br]most about Hayden, which a lot of people .

0:16:51.558,0:16:56.748
got from him right from the beginning[br]was that he was always very funny

0:16:58.423,0:17:02.423
Alice - Make your very very very serious [br]face. I love you

0:17:02.555,0:17:08.245
(Tim) – he loved to smile and laugh, [br]he used to guffaw this was later when he

0:17:08.245,0:17:13.045
was a year old he just found the funniest [br]things hilarious he and I would just crack[br]

0:17:13.045,0:17:17.815
each other up.

0:17:20.055,0:17:24.775
(Narrator) Hayden seemed to be developing [br]normally but Allison began to notice

0:17:24.775,0:17:31.505
that some things were not quite right. [br]Allison – I was very anxious all the time

0:17:31.505,0:17:37.045
with Hayden. I was certain things were [br]not the same. I would see friends

0:17:37.045,0:17:39.765
changing the diaper of their child [br]that was around the same age

0:17:39.765,0:17:43.765
and see the physical movement [br]and the legs movement and

0:17:43.765,0:17:47.125
Hayden didn’t do that[br]

0:17:47.125,0:17:50.495
♪ (Singing “Happy Birthday”) ♪

0:17:50.495,0:17:54.395
Narrator – Doctors told them that Hayden [br]was just developing a bit slowly, but

0:17:54.395,0:17:58.235
by the time he turned a year old, it was[br]clear that something serious was wrong.

0:18:02.725,0:18:06.725
he never crawled, he never talked, [br]never ate with his fingers,

0:18:06.725,0:18:10.725
and he seemed to be going backwards, not [br]progressing.

0:18:10.833,0:18:14.833
(Tim) – I remember the last time he laughed.

0:18:14.833,0:18:18.833
I took a trip with him out to buy a suit [br]to a wedding that night

0:18:18.833,0:18:23.533
and we came back and it was really windy,[br]he just loves to fill the wind,

0:18:23.533,0:18:29.663
so we had a great time. We came back and [br]I brought them up on the couch and sat

0:18:29.663,0:18:33.983
next to him and he just kind of threw his[br]head back and laughed.

0:18:33.983,0:18:36.453
Like, oh, what a fun trip! Ya, know...

0:18:36.453,0:18:43.303
It was the last time he was able to [br]laugh, it’s really hard.[br]

0:18:56.286,0:18:59.746
(Narrator) – it turned out that Hayden [br]had Tay-Sachs disease. A genetic

0:18:59.746,0:19:03.306
condition that slowly destroys [br]a baby’s brain

0:19:05.330,0:19:09.330
(Kolodny) – What happens is a baby appears [br]normal at birth,

0:19:09.330,0:19:15.880
and over the course of the first year, [br]begins to miss developmental milestones.

0:19:17.588,0:19:19.628
So at six months a child should be turning[br]

0:19:19.628,0:19:26.388
over but is unable to sit up, to stand, to[br]walk, to talk.

0:19:28.344,0:19:33.244
(Narrator) – Tay-Sachs disease begins at[br]one infinitesimal spot on the DNA ladder

0:19:33.244,0:19:38.344
if just one letter goes wrong, say this[br]cluster of atoms is a picture of that

0:19:38.344,0:19:43.164
letter. A mistake here can come [br]down to just four atoms, that’s it.

0:19:44.203,0:19:49.313
But since genes create proteins, [br]that error creates a problem

0:19:49.313,0:19:54.073
in this protein, which is supposed to [br]dissolve fat in the brain. And now

0:19:54.073,0:19:58.613
the protein doesn’t work, so fat [br]builds up, swells the brain, and

0:19:58.613,0:20:05.363
destroys critical brain cells. And [br]all of this is the result of one

0:20:05.363,0:20:08.343
bad letter in that baby’s DNA.

0:20:10.141,0:20:14.141
Kolodny – in most cases it’s a single [br]base change as we say, a letter

0:20:14.141,0:20:17.321
difference.

0:20:17.321,0:20:22.021
(Narrator) – One defective letter out [br]of 3 billion. And no way to fix it.

0:20:22.021,0:20:28.921
Tay-Sachs is a relentlessly progressive [br]disease. In the years since his [br]

0:20:28.921,0:20:36.591
diagnosis Hayden has gone blind, can’t [br]eat solid food, it’s harder for him to

0:20:36.591,0:20:42.991
swallow, he can’t move on his own, [br]and he has seizures as many as 10

0:20:42.991,0:20:45.081
times a day.

0:20:45.081,0:20:48.541
Kolodny – for children with classical [br]Tay-Sachs disease, there is only one

0:20:48.541,0:20:58.731
outcome. Children die by age 5 to 7. [br]Sometimes even before age 5.[br]

0:21:00.401,0:21:05.121
(Narrator) – as it happens, Tim has an [br]identical twin brother. When Hayden

0:21:05.121,0:21:09.121
was diagnosed, that brother, Charlie [br]went to New York to be with him.

0:21:11.822,0:21:17.682
Charlie’s wife Blythe had had been [br]Allison’s roommate in college and

0:21:17.682,0:21:21.682
her best friend.

0:21:21.682,0:21:26.802
Blythe – Charlie called me on the phone [br]and told me to Hayden had Tay-Sachs [br]

0:21:26.802,0:21:32.126
and explained I went to the computer and [br]looked it up and then just couldn’t

0:21:32.126,0:21:37.016
believe what I read.[br](Blythe and Taylor talking)

0:21:37.840,0:21:41.470
(Narrator) – Blythe and Charlie had a [br]three-year-old daughter Taylor and a

0:21:41.470,0:21:45.470
baby girl named Cameron. Cameron [br]was happy and healthy except for one

0:21:45.470,0:21:50.610
small thing.[br]Blythe – on the NTSAD website it talks

0:21:50.610,0:21:54.230
about that typically between six and [br]eight months is when the signs start

0:21:54.230,0:21:58.710
coming. But one of the early signs is [br]that they startle easily and Hayden

0:21:58.710,0:22:04.350
had always had a heavy startle [br]response. We noticed that Cameron

0:22:04.350,0:22:12.320
had a comparable startle response. [br]Not as severe, but absolutely not

0:22:12.320,0:22:15.660
like Taylor had had.[br](Narrator) – as soon as she saw

0:22:15.660,0:22:20.180
that early warning sign on the Tay-Sachs[br]website, Blythe went to get herself and

0:22:20.180,0:22:24.530
Cameron tested.[br](Charlie) – it was another week until we

0:22:24.530,0:22:28.670
got the final results on Cameron’s [br]bloodwork. And then the Tuesday before

0:22:28.670,0:22:33.270
Thanksgiving, we went into our [br]pediatrician’s office we had the results

0:22:33.270,0:22:39.410
that Blythe was a carrier and Cameron [br]had Tay-Sachs[br]

0:22:39.410,0:22:50.710
Blythe – all I said was “I’m sorry.”[br](Narrator) – Tay-Sachs is a very rare

0:22:50.710,0:22:55.900
disease that usually occurs in specific [br]groups, like Ashkenazi Jews, but even

0:22:55.900,0:23:01.860
then the baby must inherit the gene [br]from both parents. So even though

0:23:01.860,0:23:06.080
there is a Tay-Sachs test, the Lords had [br]no reason to think they would be a risk.[br]

0:23:10.810,0:23:19.270
And yet incredibly all four of them, Tim [br]and Charlie and both their wives, were

0:23:19.270,0:23:25.120
carriers. That was an unbelievably bad [br]role of the genetic dice.

0:23:26.906,0:23:35.186
Tim – Charlie and I are incredibly close [br]and have been all our lives. And when I

0:23:35.186,0:23:40.026
think about him and Blythe having to go[br]through this it seems really cruel

0:23:43.556,0:23:50.866
Charlie – I had already geared myself up [br]to be my brother’s rock. And I couldn’t

0:23:50.866,0:24:00.806
imagine having to help him and go [br]through it myself <i>voice breaks</i>

0:24:04.553,0:24:09.563
(Narrator) – for families like the Lords [br]and for everybody, the Human Genome

0:24:09.563,0:24:13.823
Project offers the chance to find out [br]early if we’re at risk for all kinds of

0:24:13.823,0:24:21.293
diseases.[br]Tim Lord - I would like to see a really

0:24:21.293,0:24:28.373
aggressive push to develop a test for [br]hundreds of genetic diseases, so that

0:24:28.373,0:24:32.133
parents could be [br]informed before they start to have

0:24:32.133,0:24:42.003
children as to the dangers that faced [br]them. I think it’s within our grasp, now

0:24:42.003,0:24:45.744
that we’ve mapped the human genenome, [br]the information is there for people to

0:24:45.744,0:24:55.814
begin to sort through[br]Tim – (talking to Hayden), “all right

0:24:55.814,0:25:00.234
pumpkin”[br](Tim) – they are horrible horrible

0:25:00.234,0:25:05.194
diseases. If there is any way you could[br]be tested for a whole host of them and [br]

0:25:05.194,0:25:08.724
not have them[br]affect the child, I think it’s something [br]

0:25:08.724,0:25:12.724
that we have to focus on[br]

0:25:19.823,0:25:25.863
(Narrator) – Hayden Lord died a few months[br]before his third birthday.

0:25:28.241,0:25:30.201
Narrator - what makes this story

0:25:30.201,0:25:32.441
especially hard to bear is we now know

0:25:32.441,0:25:34.691
that a loss that huge, and it was a

0:25:34.691,0:25:37.071
catastrophe by any measure, started

0:25:37.071,0:25:41.071
with a single error, a few atoms across,

0:25:41.071,0:25:44.341
buried inside a cell. Now, if something

0:25:44.341,0:25:47.431
so small could trigger such an enormous

0:25:47.431,0:25:49.621
result, is a perspective that is

0:25:49.621,0:25:51.921
incredibly frightening.

0:25:51.921,0:25:53.891
Except, that now geneticists have figured

0:25:53.891,0:25:56.111
out how to see many of these tiny errors

0:25:56.111,0:25:59.151
before they become catastrophes.

0:25:59.151,0:26:00.931
When you think about that, that's an

0:26:00.931,0:26:03.601
extraordinary thing, to spot a catastrophe

0:26:03.601,0:26:07.001
when it's still an insignificant dot in a[br]cell.

0:26:07.001,0:26:10.011
Which is the promise of the Human Genome[br]Project.

0:26:10.011,0:26:12.571
It is first and foremost, an early warning

0:26:12.571,0:26:14.981
system for a host of diseases, which

0:26:14.981,0:26:18.981
will give, hopefully, parents, doctors,[br]and scientists an advantage

0:26:18.981,0:26:21.481
that we have never had before. When you

0:26:21.481,0:26:23.961
can see trouble coming way way before

0:26:23.961,0:26:25.911
it starts you have a chance to stop it

0:26:25.911,0:26:29.561
or treat it... eventually, you might cure[br]it.

0:26:30.636,0:26:32.576
(Narrator) And that's why, when Congress

0:26:32.576,0:26:35.886
created the Human Genome Project in[br]1990, the challenge was

0:26:35.886,0:26:41.886
to get a complete list of our A's, T's,[br]C's, and G's as quickly as possible.

0:26:41.886,0:26:44.096
So, the business of making tests,

0:26:44.096,0:26:47.766
medicines, and cures could begin.

0:26:47.766,0:26:50.716
They figured it would take about 15 years

0:26:50.716,0:26:52.956
to decode a human being, and at the time,

0:26:52.956,0:26:55.516
that seemed reasonable.

0:26:55.516,0:26:58.216
Until this man: scientist, entrepreneur,

0:26:58.216,0:27:00.756
and speed-boat enthusiast, Craig Venter,

0:27:00.756,0:27:05.036
decided that he could do it faster, much[br]faster.

0:27:05.036,0:27:07.146
(Craig) It's like sailing. Once you have

0:27:07.146,0:27:09.496
two sailboats on the water going

0:27:09.496,0:27:11.326
approximately the same direction,

0:27:11.326,0:27:13.456
they're racing. And science works very

0:27:13.456,0:27:17.136
much the same way. If you have two labs

0:27:17.136,0:27:19.676
Craig - remotely working on the same[br]thing,

0:27:19.676,0:27:23.906
one tries to get there faster, better, or

0:27:23.906,0:27:28.636
higher quality... something different,[br]in part, because our society

0:27:28.636,0:27:31.556
recognizes only "First Place".

0:27:32.065,0:27:34.105
(Narrator) Back in 1990, Vinter was one

0:27:34.105,0:27:37.785
of many government scientists[br]painstakingly decoding

0:27:37.785,0:27:40.755
proteins and genes, his focus was one

0:27:40.755,0:27:42.735
protein in the brain.

0:27:42.735,0:27:46.155
Vinter - I took 10 years to get the[br]protein, and it took a whole year

0:27:46.155,0:27:48.415
to get 1,000 letters of genetic code.

0:27:48.415,0:27:50.875
(Narrator) For Venter, that was way too[br]slow.

0:27:50.875,0:27:53.585
Narrator - So, you're sitting there[br]thinking there must be

0:27:53.585,0:27:55.385
a better way when you were gazing out

0:27:55.385,0:27:56.115
the window.

0:27:56.115,0:27:58.065
Vinter - There HAD to be a better way.

0:27:58.065,0:28:00.095
(Narrator) And that's when he learned that

0:28:00.095,0:28:03.565
someone had invented a new machine[br]that could identify C's and T's and A's

0:28:03.565,0:28:05.265
and G's with remarkable speed.

0:28:05.265,0:28:08.775
And Craig Venter just loves machines that

0:28:08.775,0:28:10.085
go fast.

0:28:10.085,0:28:11.835
Vinter - I immediately contacted the

0:28:11.835,0:28:14.635
company to see if I could get one of the[br]first machines.

0:28:15.369,0:28:17.209
(Narrator) - And here's how they work:

0:28:17.209,0:28:20.029
Human DNA is chopped by robots into tiny

0:28:20.029,0:28:23.179
pieces. These pieces are copied over and

0:28:23.179,0:28:25.809
over again in bacteria and then tagged

0:28:25.809,0:28:29.809
with colored dyes.

0:28:30.481,0:28:33.611
A laser bounces light off of each snip of

0:28:33.611,0:28:36.991
DNA and the colors that it sees represent

0:28:36.991,0:28:40.081
individual letters in the genetic code.

0:28:40.081,0:28:43.011
And these computers can do this 24 hours

0:28:43.011,0:28:46.281
a day, everyday.

0:28:46.281,0:28:49.311
Venter - See, now you can see clearly the[br]peaks.

0:28:49.311,0:28:51.201
So, there's just a blue on coming up so

0:28:51.201,0:28:53.391
that's a "C" coming up. You could read

0:28:53.391,0:28:55.841
this and you could write this all down.

0:28:55.841,0:28:59.391
(Narrator) So, blue, yellow, red, red,[br]yellow...

0:28:59.391,0:29:02.841
Venter - So, that's C, G, T, T, A.

0:29:02.841,0:29:04.771
(Narrator) And, somehow all these little

0:29:04.771,0:29:10.181
pieces have to be put together again in[br]the right order. Venter's dream was to

0:29:10.181,0:29:12.491
have hundreds of new machines at his

0:29:12.491,0:29:15.221
fingertips, so he quit is government job

0:29:15.221,0:29:16.741
and formed a company he called,

0:29:16.741,0:29:19.591
"Celera Genomics". "Celera", from the

0:29:19.591,0:29:22.751
Latin word, "Celerity", meaning, "Speed".

0:29:22.751,0:29:25.791
And this is what he built.

0:29:25.791,0:29:29.191
Narrator - Oh my Lord. And you know what's

0:29:29.191,0:29:31.271
interesting is there's almost nobody here.

0:29:31.271,0:29:34.821
Vinter - Yeah. It's all automated.

0:29:34.821,0:29:36.981
(Narrator) So, who is this guy and why's

0:29:36.981,0:29:40.171
he such a bulldog for speed?

0:29:40.171,0:29:43.121
Craig Venter grew up in California,

0:29:43.121,0:29:44.981
left high school and spent a year as a

0:29:44.981,0:29:47.641
surfing bum on the beach by day and

0:29:47.641,0:29:50.821
a stock-boy at Sears by night. He was

0:29:50.821,0:29:53.411
inevitably drafted, went to Vietnam with

0:29:53.411,0:29:55.551
the Navy. That's him way over there on

0:29:55.551,0:29:57.841
the left. He was eventually assigned to a

0:29:57.841,0:29:59.851
Naval Hospital in Denang during the

0:29:59.851,0:30:01.681
Tet Offensive, when the Americans were

0:30:01.681,0:30:03.881
taking very heavy casualties.

0:30:03.881,0:30:06.211
At 21, he was in the triage unit, where

0:30:06.211,0:30:10.221
they decide who will live, and who will[br]die.

0:30:10.221,0:30:11.451
When you're young and you

0:30:11.451,0:30:13.341
Narrator - see a lot of people die, and

0:30:13.341,0:30:15.481
they could all be you, do feel like you

0:30:15.481,0:30:19.711
sort of owe them cures, cures that they'll

0:30:19.711,0:30:22.521
never get? Or am I over-romanticizing...

0:30:22.521,0:30:24.431
Vinter - Well, the motivation's become

0:30:24.431,0:30:28.471
complex, but that's certainly apart of it.

0:30:28.471,0:30:32.571
Also, I think surviving the year there[br]was...

0:30:32.571,0:30:36.571
(emotional pause)

0:30:43.677,0:30:46.357
So, it puts things in perspective that

0:30:46.357,0:30:49.177
I think, if you're not in that situation,

0:30:49.177,0:30:53.177
you could never truly have that[br]perspective.

0:30:53.177,0:30:56.257
Narrator - So, you hear ticking?

0:30:56.257,0:31:00.257
Vinter - Yeah... but also, I feel, that

0:31:00.257,0:31:02.487
I've had this tremendous gift for all

0:31:02.487,0:31:05.427
these years since I got back in 1968, and

0:31:05.427,0:31:07.237
I wanted to make sure I did something

0:31:07.237,0:31:10.067
with it.

0:31:10.768,0:31:12.698
(Narrator) In the spring of 1998, Venter

0:31:12.698,0:31:14.778
announced that he and his company were[br]gonna

0:31:14.778,0:31:16.928
sequence all three billion letters of the

0:31:16.928,0:31:19.768
human genome in two years.

0:31:19.768,0:31:21.328
Remember, the government said it

0:31:21.328,0:31:23.278
was gonna take 15.

0:31:23.278,0:31:25.278
(Venter) There was a lot of arrogance

0:31:25.278,0:31:27.628
that went with that program

0:31:27.628,0:31:29.528
Vinter - they were gonna do it at their

0:31:29.528,0:31:32.978
pace, and a lot of the scientists, ya[br]know, if they were really

0:31:32.978,0:31:35.008
being honest with you, would tell you that

0:31:35.008,0:31:37.408
they planned to retire doing this program.

0:31:37.408,0:31:39.718
You know, that's not what we think is the

0:31:39.718,0:31:41.738
right way to do science, especially

0:31:41.738,0:31:44.318
science that affects so many peoples'[br]lives.

0:31:44.318,0:31:47.498
Robert - Craig's a high-testosterone male.

0:31:47.498,0:31:50.818
Who has, who loves to be an iconoclast,[br]right?

0:31:50.818,0:31:54.098
He loves rattling peoples' cages. And he's

0:31:54.098,0:31:57.238
done that consistently in the genome[br]project.

0:31:57.948,0:32:00.018
(Narrator) Craig Venter's announcement

0:32:00.018,0:32:01.478
that his team would finish the

0:32:01.478,0:32:04.998
entire genome in just two years,[br]galvanized everybody working

0:32:04.998,0:32:08.238
on the public project. Now, they were

0:32:08.238,0:32:10.368
scrambling to keep up.

0:32:10.368,0:32:11.968
Man - There are some limitations,

0:32:11.968,0:32:15.308
we don't think we can this thing to go[br]any faster at the moment without

0:32:15.308,0:32:18.658
throwing a lot more robotics at it.[br]The arm physically takes 20 seconds

0:32:18.658,0:32:19.378
to move...

0:32:19.378,0:32:22.628
(Narrator) Francis Collins, the head of[br]the Human Genome Project, was

0:32:22.628,0:32:26.178
determined that Celera was not gonna[br]beat his teams to the prize. He made a

0:32:26.178,0:32:30.988
dramatic decision to try to cut five full[br]years off of the original plan.

0:32:30.988,0:32:33.048
Eric - The okay way to do it...

0:32:33.048,0:32:37.918
(Francis) When the major genome[br]centers met, and agreed to go for broke

0:32:37.918,0:32:40.688
here, I don't think there was anybody in

0:32:40.688,0:32:42.678
the room that was very confident we could

0:32:42.678,0:32:44.608
do that. I mean, you could sit down with

0:32:44.608,0:32:46.508
a piece of paper, and make projections,

0:32:46.508,0:32:48.528
if everything went really well, that might

0:32:48.528,0:32:51.398
get you there, but there were so many ways

0:32:51.398,0:32:55.398
this could have just run completely[br]off the track.

0:32:55.398,0:32:57.368
(Narrator) At MIT, they decided to try to

0:32:57.368,0:33:00.458
scale up their effort 15-fold.

0:33:00.458,0:33:02.298
And that meant a major change in their

0:33:02.298,0:33:04.468
usual academic pace.

0:33:04.468,0:33:06.248
(Woman) We basically had a goal since

0:33:06.248,0:33:09.868
Woman - march to get to a plate emitted[br]operation from womb-to-tomb all the

0:33:09.868,0:33:10.748
way through.

0:33:10.748,0:33:14.428
(Narrator) In the fall of 1999,[br]representatives from the five

0:33:14.428,0:33:18.058
major labs come to check out Eric[br]Lander's operation.

0:33:18.058,0:33:21.468
All the big honchos in the Human[br]Genome Project are here.

0:33:21.468,0:33:23.328
Scientists from Washington University

0:33:23.328,0:33:26.338
in St. Louis, Baylor College of Medicine

0:33:26.338,0:33:29.218
in Texas, the Department of Energy,

0:33:29.218,0:33:32.078
she's from the Sanger Center in England.

0:33:32.078,0:33:34.118
If they want to finish the genome before

0:33:34.118,0:33:36.298
Craig Venter, these folks have to figure

0:33:36.298,0:33:38.478
out how to outfit their labs with a lot of

0:33:38.478,0:33:41.728
new, and fancy, and unfamiliar equipment,

0:33:41.728,0:33:44.718
and they've got to do it fast.

0:33:44.718,0:33:46.608
Woman - So, we'll have to run some kind

0:33:46.608,0:33:47.908
of a conduit...

0:33:47.908,0:33:50.227
(Narrator) At MIT, a different crate is

0:33:50.227,0:33:52.067
arriving almost daily.

0:33:52.067,0:33:54.897
Man - It's like Christmas, everyone [br]unwrap something.

0:33:54.897,0:33:56.627
(Narrator) Just like a bad Christmas

0:33:56.627,0:33:59.197
present, assembly is required, and the

0:33:59.197,0:34:04.077
instruction are, of course, not always[br]clear.

0:34:04.077,0:34:06.497
(Man) Oh no, the magnet-plates stick[br]to each other?

0:34:06.497,0:34:09.667
Man - This is about, plus or minus three[br]feet.

0:34:09.667,0:34:10.397
(laughing)

0:34:10.397,0:34:14.057
(Eric Landers) Since one's on the cutting-[br]edge, I guess that they always call

0:34:14.057,0:34:16.227
Eric - it the "bleeding edge", right?[br]Nothing,

0:34:16.227,0:34:20.167
really, is working as you would expect.[br]All the stuff we're doing will be working

0:34:20.167,0:34:22.297
perfectly as soon as we're ready to junk[br]it.

0:34:22.297,0:34:25.307
(Man) Right, right.[br](Narrator) The MIT crew is particularly

0:34:25.307,0:34:27.027
excited about their brand-new,

0:34:27.027,0:34:32.647
$300,000, state-of-the-art, DNA purifying[br]machine.

0:34:32.647,0:34:37.717
Man - Alright, maiden voyage, it didn't[br]ask me for a password, that's good.

0:34:39.488,0:34:40.658
On it goes.

0:34:40.658,0:34:42.758
Other man - Got the yellow light right[br]away.

0:34:42.758,0:34:45.478
(Man) That's okay...[br](Narrator) I don't think the blinking

0:34:45.478,0:34:46.598
light is a good sign...

0:34:46.598,0:34:49.528
(Man) Looks like we have an air leak[br]somewhere.

0:34:49.528,0:34:52.288
Uh oh, look at this.

0:34:52.288,0:34:53.708
(Man) It's cracked.

0:34:53.708,0:34:55.708
(Eric Landers) It's sort of like flying a

0:34:55.708,0:34:57.668
very large plane and repairing it while

0:34:57.668,0:35:00.248
you're flying. And you're trying to figure

0:35:00.248,0:35:03.108
out what went wrong.

0:35:03.108,0:35:06.028
And you also realize that you're spending

0:35:06.028,0:35:08.328
10's of thousands of dollars an hour,

0:35:08.328,0:35:10.138
so you feel under a little pressure

0:35:10.138,0:35:13.418
to sort of work this out as quickly as[br]you can.

0:35:13.418,0:35:16.248
(Narrator) So, he calls the customer[br]service line.

0:35:16.248,0:35:17.878
And of course, he's put on hold...

0:35:17.878,0:35:23.608
(music playing)

0:35:24.375,0:35:28.375
So, he waits...

0:35:30.226,0:35:34.226
And he waits...

0:35:35.835,0:35:39.835
And he waits...

0:35:41.394,0:35:44.434
Anyway, it turns out the the $300,000

0:35:44.434,0:35:47.144
machine does have one tiny little valve

0:35:47.144,0:35:51.504
that is broke, and so it doesn't work.

0:35:52.056,0:35:53.706
(Man) Alright...

0:35:53.749,0:35:56.319
(Eric) You never know whether the problem

0:35:56.319,0:36:02.579
is due to some robot, some funky bit of[br]biochemistry, some

0:36:02.579,0:36:05.349
chemical that you've got that isn't really

0:36:05.349,0:36:10.469
working. And, so, it's incredibly[br]complicated.

0:36:10.469,0:36:13.819
Woman - So, we have a transformation,[br]where we transform a tenth of

0:36:13.819,0:36:14.719
our ligation...

0:36:14.719,0:36:16.709
Man - And add SDS to lice the phage.

0:36:16.709,0:36:19.839
Man - And all of our thermo-cyclers are[br]three to four well plates.

0:36:19.839,0:36:21.819
(Man) So, if you basically determine your

0:36:21.819,0:36:24.419
Man - (inaudible scientific jargon ... and

0:36:24.419,0:36:27.659
give them each a different run module...

0:36:27.659,0:36:31.519
(Francis) Try to ramp something up...[br]anything that's the slightest bit

0:36:31.519,0:36:34.599
cloogey suddenly becomes a major[br]bottleneck.

0:36:34.599,0:36:37.049
Man - We talked about doing a full-out

0:36:37.049,0:36:41.299
test today and we weren't quite feeling[br]good about doing that yet, so...

0:36:41.299,0:36:43.516
(Francis) There was a considerable sense

0:36:43.516,0:36:47.066
of white knuckles, because here we made

0:36:47.066,0:36:49.496
this promise, we were on the record here

0:36:49.496,0:36:51.156
saying we were gonna do this.

0:36:51.156,0:36:53.156
And things weren't working, the machines

0:36:53.156,0:36:56.746
were breaking down.

0:36:56.746,0:36:58.856
Woman - This is like... November?

0:36:58.856,0:37:01.726
Francis - And it's gotta work now. The[br]time is running out.

0:37:01.726,0:37:05.966
Man - This is one of it's three inaugural [br]runs and

0:37:05.966,0:37:08.546
(Man) it seems to be flawless, so far.

0:37:08.546,0:37:11.276
(Narrator) It took awhile, but the[br]government teams finally hit

0:37:11.276,0:37:14.106
their stride.

0:37:14.368,0:37:16.398
(Francis) But the fall of that year was

0:37:16.398,0:37:19.658
really, sort of, the determining time.

0:37:19.658,0:37:22.238
The Center's really proved their mettle.

0:37:22.238,0:37:24.338
And every one of them began to catch

0:37:24.338,0:37:28.648
this rising curve, and ride it and we[br]began to see data

0:37:28.648,0:37:32.208
appearing at prodigious rates.

0:37:32.885,0:37:33.925
Man - Do all...

0:37:34.176,0:37:36.576
(Francis) By early 2000's, a thousand

0:37:36.576,0:37:39.226
base pairs-per-second were rolling out of

0:37:39.226,0:37:43.226
this combined enterprise, seven days a[br]week, 24 hours a day,

0:37:43.226,0:37:45.316
1,000 base pairs a second.

0:37:45.316,0:37:48.756
Then it really starts to go.

0:37:48.756,0:37:51.366
(Narrator) And those thousands of base[br]pairs poured out of

0:37:51.366,0:37:55.366
university labs directly onto the[br]internet.

0:37:55.366,0:38:02.646
(music playing)

0:38:03.134,0:38:04.994
(Narrator) Updated every night, it's

0:38:04.994,0:38:07.484
available for anyone, and everybody.

0:38:07.484,0:38:11.484
Including, by the way, the competition.

0:38:11.646,0:38:13.186
Man - Customers love our data...

0:38:13.186,0:38:15.136
(Narrator) Celera admits they got lots of

0:38:15.136,0:38:17.446
data directly from the government.

0:38:17.446,0:38:19.366
And Tony White, who runs the company

0:38:19.366,0:38:21.926
that owns Celera says, "Why not?"

0:38:21.926,0:38:23.776
Tony - That's publicly available data.

0:38:23.776,0:38:25.986
I'm a taxpayer, Celera's a taxpayer.

0:38:25.986,0:38:28.696
Ya know, why should we be excluded from

0:38:28.696,0:38:31.746
getting it? I mean, again, are they[br]creating it

0:38:31.746,0:38:35.186
to give to all mankind except Celera?

0:38:35.186,0:38:38.076
Is that the idea, it isn't about us

0:38:38.076,0:38:40.986
getting the data, it's about this[br]academic jealousy.

0:38:40.986,0:38:43.396
It's about the fact that our data, in

0:38:43.396,0:38:45.656
combination with theirs, give us a

0:38:45.656,0:38:48.426
perceived unfair advantage over this

0:38:48.426,0:38:49.896
so-called race.

0:38:49.896,0:38:53.796
Eric - If they wanna race us, that's[br]their business.

0:38:53.796,0:38:55.226
I suppose they may.

0:38:55.226,0:38:57.276
(Narrator) I suspect strongly that they[br]may.

0:38:57.276,0:39:02.896
Eric - Our job to get that data so that[br]everybody can go use it.

0:39:02.896,0:39:04.916
(Narrator) Since Celera was sequencing the

0:39:04.916,0:39:07.046
genome with private money, some critics

0:39:07.046,0:39:09.146
wondered why should the government put

0:39:09.146,0:39:14.236
so much cash into the exact same research?

0:39:14.769,0:39:18.199
(Eric) In the United States, we invested[br]in a National Highway system

0:39:18.199,0:39:21.619
in the 1950's. We got tremendous return

0:39:21.619,0:39:24.549
from building roads for free, and letting

0:39:24.549,0:39:26.319
everybody drive up and down them for

0:39:26.319,0:39:28.429
whatever purpose they wanted. We're

0:39:28.429,0:39:31.469
building a road up and down the[br]chromosomes... for free.

0:39:31.469,0:39:33.319
People can drive up and down those

0:39:33.319,0:39:35.179
chromosomes from whatever they need

0:39:35.179,0:39:37.179
to. They can make discoveries, they can

0:39:37.179,0:39:38.929
learn about medicine, they can learn

0:39:38.929,0:39:40.729
about history, whatever they want.

0:39:40.729,0:39:43.079
It is worth the public investment to

0:39:43.079,0:39:45.059
make those roads available.

0:39:45.059,0:39:46.929
(Narrator) Wait a second, what I really

0:39:46.929,0:39:49.429
want to know is if you're making a roadmap

0:39:49.429,0:39:52.549
of a human being, which human beings are

0:39:52.549,0:39:55.869
we mapping? I mean humans come in so many

0:39:55.869,0:39:59.019
varieties, so whose genes, exactly, are

0:39:59.019,0:40:00.609
we looking at?

0:40:00.609,0:40:03.499
Eric - Yeah, it's mostly a guy from[br]Buffalo and a woman from

0:40:03.499,0:40:05.439
Buffalo. That's because the laboratory--

0:40:05.439,0:40:08.089
Narrator - Whoa, whoa, wait... An [br]anonymous couple from

0:40:08.089,0:40:08.819
Buffalo?

0:40:08.819,0:40:10.729
Eric - No, they're not a couple. They've

0:40:10.729,0:40:12.229
never met. The laboratory was a

0:40:12.229,0:40:14.199
laboratory in Buffalo. So, they put an ad

0:40:14.199,0:40:16.069
in the Buffalo newspapers, and they got

0:40:16.069,0:40:17.769
random volunteers from Buffalo.

0:40:17.769,0:40:20.399
They got about 20 of them, and chose

0:40:20.399,0:40:22.509
at random the sample, and that sample,

0:40:22.509,0:40:25.089
and that sample, so nobody knows who

0:40:25.089,0:40:26.299
they are.

0:40:26.663,0:40:28.243
(Narrator) And what about Celera?

0:40:28.243,0:40:30.723
Whose DNA are they mapping?

0:40:30.723,0:40:32.793
They also got a bunch of volunteers,

0:40:32.793,0:40:36.793
around 20, and picked five lucky winners

0:40:36.793,0:40:38.713
Craig - We tried to have some diversity,

0:40:38.713,0:40:41.463
in terms of, if we had an African American

0:40:41.463,0:40:43.523
or somebody's self-proclaimed Chinese

0:40:43.523,0:40:47.523
history, two Caucasians, and a Hispanic.

0:40:47.523,0:40:49.953
So, some of the volunteers were here

0:40:49.953,0:40:50.823
on the staff...

0:40:50.823,0:40:52.783
Narrator - I have to ask, cause everybody

0:40:52.783,0:40:54.023
does, are you one of them?

0:40:54.023,0:40:56.883
Craig - I am one of the volunteers, yes.

0:40:56.883,0:40:59.213
Narrator - Do you know whether or [br]not you're one

0:40:59.213,0:40:59.953
of the winners?

0:40:59.953,0:41:03.803
I have a pretty good idea, yes, but I

0:41:03.803,0:41:07.493
can't disclose that, because it doesn't

0:41:07.493,0:41:08.323
matter.

0:41:08.323,0:41:10.143
Narrator - Well, if you're the head of

0:41:10.143,0:41:13.493
the company and you're watching the[br]decoding of muah. That has a little

0:41:13.493,0:41:14.683
Miss Piggy quality to it.

0:41:14.683,0:41:16.573
Craig - Well, any scientist that I know

0:41:16.573,0:41:18.353
would love to be looking at their own

0:41:18.353,0:41:20.243
genetic code. I mean, how could you not

0:41:20.243,0:41:21.943
want to in this field?

0:41:21.943,0:41:23.763
(Narrator) Well, I don't know, I don't

0:41:23.763,0:41:27.553
work in this field. But I do wonder, can

0:41:27.553,0:41:30.123
any small group, and could that guy

0:41:30.123,0:41:33.393
from Buffalo, could he really be a[br]stand-in

0:41:33.393,0:41:37.023
for all humankind?

0:41:37.583,0:41:39.463
Hasn't it been drummed into us since

0:41:39.463,0:41:42.233
birth that we're all... different? Each

0:41:42.233,0:41:46.233
and every one of us, completely unique.

0:41:47.700,0:41:51.180
We certainly look different.

0:41:51.180,0:41:53.480
People come in so many shapes, and

0:41:53.480,0:41:59.120
colors, and sizes... The DNA of these

0:41:59.120,0:42:01.570
humans has got to be significantly

0:42:01.570,0:42:05.770
different than the DNA of this human.[br]Right?

0:42:06.573,0:42:08.583
Eric - The genetic difference between any

0:42:08.583,0:42:11.643
two people is 1/10th of a percent.

0:42:11.643,0:42:14.333
Those two, and any people on this planet,

0:42:14.333,0:42:18.333
are 99.9% identical at the DNA level.

0:42:18.566,0:42:20.736
It's only one letter in a thousand[br]difference.

0:42:21.900,0:42:24.840
Narrator - And if I were to bring,

0:42:24.840,0:42:28.650
secretly into another room, a black man,

0:42:28.650,0:42:31.960
an Asian man, and a white man, and

0:42:31.960,0:42:35.080
show you only their genetic code,

0:42:35.080,0:42:37.100
could you tell which one was the white[br]one?

0:42:37.100,0:42:38.200
Eric - I could not.

0:42:38.200,0:42:40.470
What's going on? Well, it tells us that,

0:42:40.470,0:42:45.030
first, as a species, we are very very

0:42:45.030,0:42:47.020
closely related. Cause any two human

0:42:47.020,0:42:49.360
beings being 99.9% identical, means that

0:42:49.360,0:42:51.140
we are much more closely related than

0:42:51.140,0:42:53.070
any two chimpanzees in Africa.

0:42:53.070,0:42:55.100
(Narrator) Wait, wait, you mean if two

0:42:55.100,0:42:56.880
chimpanzees are swinging through the

0:42:56.880,0:42:58.710
forest, and you look at the genes of

0:42:58.710,0:43:00.350
chimp A, and you look at the genes

0:43:00.350,0:43:01.090
of chimp B...

0:43:01.090,0:43:02.970
Eric - Average difference between those

0:43:02.970,0:43:05.240
chimps, is 4 - 5 times more than the

0:43:05.240,0:43:07.540
average between two humans that you

0:43:07.540,0:43:08.990
could pluck off this planet.

0:43:08.990,0:43:11.160
(Narrator) Because we're such a young[br]species?

0:43:11.160,0:43:12.430
(Eric) That's right.

0:43:12.430,0:43:15.300
See, the thing is, we are the descendants

0:43:15.300,0:43:19.660
of a very small founding population.

0:43:20.509,0:43:22.519
Every human on this planet goes back

0:43:22.519,0:43:24.899
to a founding population of, perhaps,

0:43:24.899,0:43:27.519
10 or 20 thousand people in Africa.

0:43:27.519,0:43:31.429
About 100,000 years ago.

0:43:31.429,0:43:33.659
That little population didn't have a great

0:43:33.659,0:43:36.399
deal of genetic variation, and what

0:43:36.399,0:43:39.079
happened was, it was successful; it

0:43:39.079,0:43:41.409
multiplied all over the world, but in that

0:43:41.409,0:43:44.099
time, relatively little new genetic

0:43:44.099,0:43:47.019
variation is built up. So, we have today

0:43:47.019,0:43:49.369
on our planet, about the same genetic

0:43:49.369,0:43:51.369
variation that we walked out of Africa

0:43:51.369,0:43:52.579
with.

0:43:56.861,0:43:58.841
(Narrator) So, people are incredibly

0:43:58.841,0:44:01.541
similar to each other. But not only that,

0:44:01.541,0:44:03.791
it turns out that we also share many

0:44:03.791,0:44:06.951
genes with, well, everything.

0:44:07.374,0:44:10.754
50% of the genes of a banana are different[br]from us?

0:44:10.754,0:44:12.814
Eric - How different are you from a[br]banana?

0:44:12.814,0:44:14.824
Narrator - I feel, and I feel like can say

0:44:14.824,0:44:16.754
this with some authority, very different

0:44:16.754,0:44:17.494
from a banana.

0:44:17.494,0:44:20.784
Eric - You may feel different from -[br]Narrator - I eat a banana but I-

0:44:20.784,0:44:22.664
Eric - Look, you've got cells, you've

0:44:22.664,0:44:25.164
gotta make those cells divide. So, all

0:44:25.164,0:44:27.504
the machinery for replicating your DNA,

0:44:27.504,0:44:29.864
all the machinery for controlling the

0:44:29.864,0:44:33.064
cell-cycle, the cell's surface, for making

0:44:33.064,0:44:35.824
nutrients, all that's the same in you and

0:44:35.824,0:44:39.824
a banana.

0:44:40.706,0:44:43.866
(Eric) Deep down, the fundamental[br]mechanisms of

0:44:43.866,0:44:47.866
life were worked out only once on this[br]planet.

0:44:52.364,0:44:56.364
And they've gotten reused in every [br]organism.

0:44:57.865,0:44:59.755
The closer and closer you get to a

0:44:59.755,0:45:02.535
cell, the more you see a bag with

0:45:02.535,0:45:04.635
stuff in it and a nucleus and most of

0:45:04.635,0:45:08.165
those basic functions are the same.

0:45:10.630,0:45:12.960
Evolution doesn't go reinvent something

0:45:12.960,0:45:14.620
when it doesn't have to.

0:45:14.620,0:45:21.050
(music playing)

0:45:23.592,0:45:27.892
Take baker's yeast, baker's yeast, we're

0:45:27.892,0:45:30.112
related to one-and-a-half billion years

0:45:30.112,0:45:32.202
ago. But even even after one-and-a-half

0:45:32.202,0:45:34.332
billion years of evolutionary separation,

0:45:34.332,0:45:36.342
the parts are still interchangeable for

0:45:36.342,0:45:37.682
lots of these genes.

0:45:37.682,0:45:40.182
Narrator - Now, does that mean,[br]I want to understand,

0:45:40.182,0:45:41.952
does that mean when you look through

0:45:41.952,0:45:43.942
those things, that all the C's, A's, T's,

0:45:43.942,0:45:46.202
T's, and the G's, are you seeing the same

0:45:46.202,0:45:47.952
exact same letter sequences in the

0:45:47.952,0:45:50.162
exact same alignment? When you look at

0:45:50.162,0:45:52.092
the yeast and you look at the person, is

0:45:52.092,0:45:52.822
it the same?

0:45:52.822,0:45:54.692
Eric - Sometimes it's eerie. The gene

0:45:54.692,0:45:57.152
sequence is nearly identical. There are

0:45:57.152,0:46:01.152
some genes, like Ubiquitin, that's 97%

0:46:01.152,0:46:03.572
identical between humans and yeast,

0:46:03.572,0:46:05.712
even after a billion years of evolution.

0:46:05.712,0:46:08.382
Narrator - Well, with a name like that,|[br]it's gotta be...

0:46:08.382,0:46:09.932
Eric - Well, yeah, but you gotta

0:46:09.932,0:46:11.692
understand that deep down we are very

0:46:11.692,0:46:14.092
much partaking of that same bag of tricks

0:46:14.092,0:46:15.902
that evolution's been using to make

0:46:15.902,0:46:18.922
organisms all over this planet.

0:46:21.321,0:46:23.261
(Narrator) It seems incredible, but all

0:46:23.261,0:46:25.531
this information about evolution, about

0:46:25.531,0:46:27.661
our relationship to each other, and to all

0:46:27.661,0:46:30.601
living things, it's all right here in this

0:46:30.601,0:46:36.081
monotonous stream of letters. And as the

0:46:36.081,0:46:38.281
Human Genome Project progressed, and

0:46:38.281,0:46:40.681
hit high gear, the pace of discovery

0:46:40.681,0:46:42.721
quickened.

0:46:43.590,0:46:45.770
Once, they got fully automated, it wasn't

0:46:45.770,0:46:48.210
long until Lander, and Collins, and all

0:46:48.210,0:46:50.550
the other public project teams had reason

0:46:50.550,0:46:53.200
to celebrate.

0:46:56.237,0:46:57.877
Francis - I'm Francis Collins, the

0:46:57.877,0:46:59.647
Director of the National Human Genome

0:46:59.647,0:47:01.687
Research Institute, and we are happy to be

0:47:01.687,0:47:04.837
here together to have a party today.

0:47:04.837,0:47:07.157
(Narrator) By November of 1999, they had

0:47:07.157,0:47:11.157
reached a major milestone. In a five-way

0:47:11.157,0:47:13.157
award ceremony, hooked up by

0:47:13.157,0:47:15.607
satellite, the major university teams

0:47:15.607,0:47:17.467
announced they had finished a billion

0:47:17.467,0:47:20.337
base pairs of DNA. A third of the total

0:47:20.337,0:47:22.477
genome.

0:47:22.939,0:47:26.939
(corks popping)

0:47:28.867,0:47:32.867
(Eric) Have we got everybody?

0:47:33.961,0:47:37.041
Eric Lander - I would like to propose

0:47:37.041,0:47:43.521
a toast. A billion base pairs, all on the

0:47:43.521,0:47:45.951
public internet, available to anybody in

0:47:45.951,0:47:49.431
the world. It's an incredible achievement.

0:47:49.431,0:47:53.071
It hasn't been completely painless.[br](laughing)

0:47:53.071,0:47:54.901
And, because, I know everybody in this

0:47:54.901,0:47:58.901
room is living and breathing and thinking

0:47:58.901,0:48:01.431
every single moment of the day about how

0:48:01.431,0:48:03.831
to make all this happen... how we can hit

0:48:03.831,0:48:06.591
full-scale. I want to be sure you realize

0:48:06.591,0:48:09.151
what a remarkable thing we pulled off.

0:48:09.151,0:48:13.711
I hope you also know that this is history.

0:48:15.491,0:48:18.912
Whatever else you do in your lives, you're

0:48:18.912,0:48:22.222
apart of history. We're apart of an

0:48:22.222,0:48:24.472
amazing effort on the part of the world to

0:48:24.472,0:48:26.352
produce. And it isn't gonna be like the

0:48:26.352,0:48:28.472
moon, where we just visit occasionally.

0:48:28.472,0:48:30.232
This is gonna be something that every

0:48:30.232,0:48:33.912
student, every doctor uses, everyday in

0:48:33.912,0:48:35.792
the next century, and the century after

0:48:35.792,0:48:39.792
that. It's something to tell your kids

0:48:39.792,0:48:41.512
about. Something to tell your

0:48:41.512,0:48:43.622
grand-kids about. It's something you

0:48:43.622,0:48:46.182
should all be tremendously proud of.

0:48:46.182,0:48:48.722
I'm tremendously proud of you.

0:48:48.722,0:48:51.883
A toast, to this remarkable group.

0:48:51.883,0:48:54.943
To the work we've done. To the work ahead.

0:48:54.943,0:48:56.112
Hear, hear.

0:48:56.112,0:48:57.272
Everyone - Hear, hear.

0:48:57.272,0:48:59.032
(Whistling)

0:48:59.032,0:49:00.952
(Narrator) Everybody here is hoping the

0:49:00.952,0:49:03.982
genome project will help cure disease.

0:49:03.982,0:49:05.952
And the sooner it's done, the better for

0:49:05.952,0:49:06.882
all of us.

0:49:06.882,0:49:09.560
(inaudible)

0:49:09.560,0:49:11.580
(Narrator) But there's something more than

0:49:11.580,0:49:14.360
idealism, more than even pride that's

0:49:14.360,0:49:18.360
driving this race to finish the genome.

0:49:18.360,0:49:20.280
And that's the knowledge that with every

0:49:20.280,0:49:22.680
day that passes, more and more pieces

0:49:22.680,0:49:24.620
of our genome are being turned into

0:49:24.620,0:49:30.100
private property by way of the U.S. Patent[br]Office.

0:49:32.456,0:49:34.026
(printing machine noises)

0:49:34.026,0:49:37.746
Woman - I said property.

0:49:37.746,0:49:39.736
(Narrrator) The office is inundated with

0:49:39.736,0:49:42.196
requests for patents for every imaginable

0:49:42.196,0:49:45.016
invention. From Star Wars action figures

0:49:45.016,0:49:48.736
to jet engines.

0:49:48.736,0:49:51.706
(paper shuffling sounds)

0:49:51.706,0:49:54.526
And here, along with all those gizmos, are

0:49:54.526,0:49:58.866
requests for patents for human genes.

0:49:58.866,0:50:00.986
Things that exist naturally in every one

0:50:00.986,0:50:04.986
of us. How is this possible?

0:50:06.099,0:50:09.339
(Todd) We regard genes as a patent-able

0:50:09.339,0:50:11.499
subject matter, as we regard almost any

0:50:11.499,0:50:15.139
chemical. We have issued patents on a

0:50:15.139,0:50:17.899
number of compounds and compositions

0:50:17.899,0:50:19.539
that are found in the human body.

0:50:19.539,0:50:24.639
For example, the gene that encodes insulin

0:50:24.639,0:50:27.319
has been patented, and that now has been

0:50:27.319,0:50:29.219
used to make almost all of the insulin

0:50:29.219,0:50:31.219
that is made. So, people's lives are being

0:50:31.219,0:50:33.179
saved today. Diabetics' lives are better.

0:50:33.179,0:50:37.139
As a matter of fact, if we ruled out every[br]chemical that's found in the human body

0:50:37.139,0:50:41.139
there'd be an awful lot of inventions that[br]would not be able to be protected.

0:50:41.139,0:50:42.889
(Narrator) Generally, to patent an

0:50:42.889,0:50:44.749
invention you've got to prove that it's

0:50:44.749,0:50:47.349
new and useful. But a few years ago

0:50:47.349,0:50:49.079
critics said that the patent office

0:50:49.079,0:50:50.989
wasn't being tough enough, so applicants

0:50:50.989,0:50:52.729
would say, "Well, here's a brand new

0:50:52.729,0:50:54.639
sequence of A's, C's, T's, and G's right

0:50:54.639,0:50:57.069
out of our machine's. That's new."

0:50:57.069,0:50:59.149
Now, "useful", wonder what they're gonna

0:50:59.149,0:51:01.249
be used for? Well, they were kind of vague

0:51:01.249,0:51:03.919
about use, says Eric Lander.

0:51:03.919,0:51:05.879
Eric - The sort of thing that people used

0:51:05.879,0:51:07.919
to do then was they would say that, "It

0:51:07.919,0:51:11.919
could be used as a probe to detect[br]itself."

0:51:11.919,0:51:13.689
It's a trivial use. I mean it's like

0:51:13.689,0:51:16.919
saying, "I could use this new protein as

0:51:16.919,0:51:19.579
packing peanuts to stuff in a box."

0:51:19.579,0:51:22.179
I mean, it's true-[br]Narrator - Well, wouldn't the patent

0:51:22.179,0:51:26.079
examiner say, "Well, that's not useful."[br]Eric - No, no, no, you see, you the patent

0:51:26.079,0:51:29.819
guidelines are very unclear. I don't[br]object to giving someone that limited time

0:51:29.819,0:51:33.339
of monopoly when they've really invented[br]a cure for a disease; some really

0:51:33.339,0:51:35.979
important therapy.[br]I do object to giving a monopoly when

0:51:35.979,0:51:37.819
somebody has simply described a couple

0:51:37.819,0:51:39.889
hundred letters of a gene, but has no idea

0:51:39.889,0:51:41.699
what use it could have in medicine...

0:51:41.699,0:51:45.459
cause what's happen is you've given away[br]that precious monopoly to someone who's

0:51:45.459,0:51:49.149
done just a little bit of work, and then[br]the people who come along and want to

0:51:49.149,0:51:52.749
do a lot of work to turn it into a[br]therapy, well... they've gotta go pay the

0:51:52.749,0:51:56.749
person who already owns it. I think it's[br]a bad deal for society.

0:51:58.766,0:52:00.946
(Narrator) It takes at least two years for

0:52:00.946,0:52:03.316
the patent office to process a single

0:52:03.316,0:52:05.576
application. So, right now, the patent

0:52:05.576,0:52:08.876
office says there are about 20,000 genetic

0:52:08.876,0:52:11.596
patents waiting for approval. All of them

0:52:11.596,0:52:14.536
are in limbo. This can cause problems for

0:52:14.536,0:52:16.466
drug companies who are trying to work

0:52:16.466,0:52:20.466
with genes to cure disease.

0:52:20.466,0:52:22.266
Narrator - I'm a company trying to do

0:52:22.266,0:52:24.186
work on this, this, and this rung of the

0:52:24.186,0:52:25.096
ladder.[br]Eric - Right

0:52:25.096,0:52:27.046
Narrator - Cause I think that I can maybe

0:52:27.046,0:52:29.486
develop a cure for cancer, [br]right here, for the sake

0:52:29.486,0:52:31.266
of arguing. But, of course, I have to

0:52:31.266,0:52:33.026
worry that somebody owns this space.

0:52:33.026,0:52:34.986
Eric - Oh, you have to worry a lot, that

0:52:34.986,0:52:38.756
this region here that you're working on[br]that might cure cancer, has already been

0:52:38.756,0:52:43.176
patented by somebody else. And that[br]patent filing is not public, and so you're

0:52:43.176,0:52:45.336
living with the shadow that all of your

0:52:45.336,0:52:47.056
work may go for naught.

0:52:47.056,0:52:48.786
Narrator - Because one day the phone

0:52:48.786,0:52:51.936
rings and says, "Sorry, you can't work[br]here. Get off my territory."

0:52:51.936,0:52:54.886
Eric - That's right.[br]Narrator - Or, you can work here, but I'm

0:52:54.913,0:52:58.443
gonna charge you $100,000 a week.[br]Or, you can work here and I'll charge you

0:52:58.443,0:53:00.783
a nickel, but I want 50% of whatever you[br]discover.

0:53:00.783,0:53:04.743
Eric - And the problem there is, it's even[br]worse, because many companies don't start

0:53:04.743,0:53:07.103
the work whenever there's a cloud over

0:53:07.103,0:53:09.703
who owns that. If there's uncertainty,

0:53:09.703,0:53:11.393
companies would rather be working

0:53:11.393,0:53:13.553
some place where they don't have [br]uncertainty.

0:53:13.553,0:53:15.573
And, therefore, I think, work doesn't get

0:53:15.573,0:53:17.483
done, because of the confusion over who

0:53:17.483,0:53:18.293
owns stuff.

0:53:19.668,0:53:21.708
(Narrator) Supporters of patents say they

0:53:21.708,0:53:25.848
are a crucial incentive for drug [br]companies.

0:53:26.514,0:53:29.374
Drug research is phenomenally expensive

0:53:29.374,0:53:31.404
but if a company can monopolize a big

0:53:31.404,0:53:33.344
discovery with a patent, it can make

0:53:33.344,0:53:37.344
hundreds of millions of dollars.

0:53:38.733,0:53:40.823
Research scientists suddenly find

0:53:40.823,0:53:43.183
themselves in an unfamiliar world, ruled

0:53:43.183,0:53:46.643
by big money.

0:53:46.643,0:53:48.883
(Sheldon) Every scientist that does[br]is research

0:53:48.883,0:53:52.363
now being looked upon as a generator of

0:53:52.363,0:53:54.983
wealth. Even if that person is not

0:53:54.983,0:53:57.753
interested in it. If they sequence some

0:53:57.753,0:54:01.273
DNA, that could be patent-able material.

0:54:01.273,0:54:05.153
So, whether the scientist likes it or not,

0:54:05.153,0:54:07.313
he or she becomes an entrepreneur just

0:54:07.313,0:54:11.313
by virtue of doing science.

0:54:12.160,0:54:14.310
(Narrator) Craig Venter is first a[br]scientist

0:54:14.310,0:54:16.620
but he has made the leap from academia

0:54:16.620,0:54:19.540
into the business world.

0:54:19.540,0:54:21.520
Narrator - Let me talk about the business

0:54:21.520,0:54:23.290
of this. Do you consider yourself a

0:54:23.290,0:54:24.250
business man?

0:54:24.250,0:54:26.330
Craig - No, in fact, I still, sort of

0:54:26.330,0:54:28.440
bristle at the term for some reason.

0:54:28.440,0:54:31.080
But my philosophy is, we would not get[br]medical

0:54:31.080,0:54:34.070
breakthroughs in this country, at all, if

0:54:34.070,0:54:36.510
it wasn't done in a business setting.

0:54:36.510,0:54:38.530
We would not have new therapies if we

0:54:38.530,0:54:40.950
didn't have a biotech and pharmaceutical

0:54:40.950,0:54:42.490
industry.

0:54:42.490,0:54:44.520
Narrator - But are they... if you bristle

0:54:44.520,0:54:46.440
at the word "businessman", that might be

0:54:46.440,0:54:48.540
because in some part of your soul, you may

0:54:48.540,0:54:51.170
think that the business of science and the

0:54:51.170,0:54:53.290
business of business are fundamentally

0:54:53.290,0:54:55.380
incompatible for one simple reason:

0:54:55.380,0:54:58.210
that the business has to sell something

0:54:58.210,0:55:00.920
and the science has to learn, or teach,

0:55:00.920,0:55:01.800
something.

0:55:01.800,0:55:03.680
Craig - I think I bristle at it because

0:55:03.680,0:55:05.580
it's used as an attack. It's used as a

0:55:05.580,0:55:09.580
criticism. In this case, if the science is

0:55:09.580,0:55:13.580
not spectacular, if the medicine is not

0:55:13.580,0:55:17.580
spectacular, there will be no profits.

0:55:18.293,0:55:21.383
(Narrator) Venter was given $300,000,000

0:55:21.383,0:55:23.803
to set up Celera, and his investors are

0:55:23.803,0:55:26.971
expecting something in return.

0:55:26.971,0:55:30.391
But how can they profit from the genome?

0:55:30.391,0:55:32.551
At the moment, the company is banking on

0:55:32.551,0:55:36.551
pure computer power.

0:55:39.096,0:55:42.526
This is Celera's master control.

0:55:42.526,0:55:45.126
24 hours a day, technicians monitor all

0:55:45.126,0:55:47.756
the company's major operations, including

0:55:47.756,0:55:49.496
the hundreds of sequencers that are

0:55:49.496,0:55:53.496
constantly decoding our genes.

0:55:54.642,0:55:56.922
And they oversee Celera's main source of

0:55:56.922,0:56:00.682
income: a massive website, where, for a

0:56:00.682,0:56:03.012
fee, you can explore several genomes,

0:56:03.012,0:56:05.652
including those of fruit flies, mice, and,

0:56:05.652,0:56:08.812
of course, humans. What all this

0:56:08.812,0:56:10.532
adds up to is something like a big

0:56:10.532,0:56:12.832
browser. A user-friendly interface between

0:56:12.832,0:56:15.902
you and your genes.

0:56:15.902,0:56:18.512
Tony White - Our business is to sell

0:56:18.512,0:56:20.672
products that enable research. That's

0:56:20.672,0:56:24.352
essentially what we do. So, we're used to

0:56:24.352,0:56:26.352
selling the picks and the shovels to the

0:56:26.352,0:56:29.912
miners. Tools to interpret the human

0:56:29.912,0:56:32.492
genome and other related species.

0:56:32.492,0:56:34.942
Or, merely more products along the

0:56:34.942,0:56:37.502
same genre, they just happen to be less

0:56:37.502,0:56:40.872
tangible than a machine.

0:56:40.872,0:56:42.792
(Narrator) So, Celera's business plan is

0:56:42.792,0:56:44.652
to gather information from all kinds of

0:56:44.652,0:56:46.682
creatures, put it together, and sell their

0:56:46.682,0:56:48.122
findings to drug companies, or

0:56:48.122,0:56:51.362
universities, or whomever. But it's the

0:56:51.362,0:56:53.682
selling part, selling scientific

0:56:53.682,0:56:55.962
information, that makes some scientists

0:56:55.962,0:56:58.162
very uncomfortable.

0:56:58.162,0:57:00.142
Todd - This is a big change in the ethos

0:57:00.142,0:57:02.702
of the scientific community, which is,

0:57:02.702,0:57:06.532
supposedly, it was built upon the idea of

0:57:06.532,0:57:10.332
community values of the free and open

0:57:10.332,0:57:13.192
exchange of information. The fundamental

0:57:13.192,0:57:15.702
idea that when you learn something, you

0:57:15.702,0:57:18.162
publish it immediately, you share it with

0:57:18.162,0:57:21.792
others. Science grows by this community

0:57:21.792,0:57:24.232
interest of shared knowledge.

0:57:24.232,0:57:26.492
Tony - I think, why doesn't Pfeiffer give

0:57:26.492,0:57:28.412
away their drugs? They could help a lot

0:57:28.412,0:57:30.412
more people if they didn't charge for[br]them.

0:57:30.412,0:57:33.392
Man - At what point is "free" really free?

0:57:33.392,0:57:35.332
(Narrator) Tony White has absolutely no

0:57:35.332,0:57:38.072
problem with making money from the human[br]genome.

0:57:38.072,0:57:40.072
Tony - I hope we have a legal monopoly on

0:57:40.072,0:57:42.022
the information. I hope the product is so

0:57:42.022,0:57:44.902
good, and so valuable to people, that they

0:57:44.902,0:57:46.932
feel that it's necessary to come through

0:57:46.932,0:57:49.642
us to get it.

0:57:49.642,0:57:51.532
Anybody who wants to can build all the

0:57:51.532,0:57:54.532
tools that we're gonna build. Whether or

0:57:54.532,0:57:56.352
not they will choose to is a different

0:57:56.352,0:57:58.402
matter.

0:57:58.402,0:58:01.982
Narrator - Which is the better business[br]to be in, do you think? The landlord

0:58:01.982,0:58:05.462
business? Or this, "You subscribe and[br]I'll give you some information about

0:58:05.462,0:58:06.822
anything you want business."

0:58:06.822,0:58:09.862
Eric - They're both lousy businesses.[br](Narrator laughing) Lousy?

0:58:09.862,0:58:11.442
Eric- They're lousy businesses by

0:58:11.442,0:58:13.612
comparison with the real business:[br]Make drugs.

0:58:13.612,0:58:16.612
Actually make molecules that cure people.

0:58:16.612,0:58:18.382
Narrator - curing people is the whole

0:58:18.382,0:58:20.302
point, right? But if there is one thing

0:58:20.302,0:58:21.902
that the Human Genome Project has

0:58:21.902,0:58:25.222
taught us, is that finding cures is a

0:58:25.222,0:58:27.102
whole lot harder than simply reading

0:58:27.102,0:58:29.522
letters of DNA.

0:58:29.522,0:58:31.442
(Narrator) Take for example, the case of

0:58:31.442,0:58:35.442
little Riley Demoush.

0:58:35.668,0:58:39.668
(baby sounds)

0:58:40.561,0:58:42.621
At two months, Riley appears to be

0:58:42.621,0:58:47.071
a perfectly healthy baby boy, but he's[br]not.

0:58:48.455,0:58:51.135
When Riley was just 13 days old, Kathy

0:58:51.135,0:58:55.135
got the call that every parent dreads.

0:58:56.695,0:58:59.295
Kathy - The pediatrician called on a

0:58:59.295,0:59:03.925
Thursday evening, and he said, "I need

0:59:03.925,0:59:05.775
to talk to you about the baby."

0:59:05.775,0:59:08.855
He said, "Are you sitting down?"

0:59:08.855,0:59:12.685
I'm like, "Yeah." And that really suprised

0:59:12.685,0:59:15.005
me. And he said, "Are you holding the

0:59:15.005,0:59:16.945
baby." Because he didn't want me to drop

0:59:16.945,0:59:18.165
the baby, obviously.

0:59:18.165,0:59:20.885
And he said, "The tests came through, and

0:59:20.885,0:59:24.535
Riley tested positive to cystic fibrosis."

0:59:24.535,0:59:28.305
And I was in shock.

0:59:28.305,0:59:29.985
(Narrator) As Kathy and her husband

0:59:29.985,0:59:32.505
would soon learn, Cystic Fibrosis, "CF"

0:59:32.505,0:59:34.675
for short, attacks several organs of the

0:59:34.675,0:59:38.355
body, but especially the lungs.

0:59:38.355,0:59:40.015
It's victims suffer from chronic

0:59:40.015,0:59:42.805
respiratory infections, and half of all

0:59:42.805,0:59:46.805
CF patients die before the age of 30.

0:59:48.983,0:59:50.983
David Waltz - To think that we can still

0:59:50.983,0:59:53.333
be hopeful that their child will grow up

0:59:53.333,0:59:56.813
to have a normal, healthy, happy, and long

0:59:56.813,1:00:00.333
life. But at the present time, I don't

1:00:00.333,1:00:02.743
have any guarantees about that.

1:00:02.743,1:00:04.583
Kathy - Someone had asked me, "Are you

1:00:04.583,1:00:08.583
prepared to bury your son at such a young

1:00:08.583,1:00:11.583
age, whether it's four or 40?" And he was

1:00:11.583,1:00:13.513
seventeen days old when that happened

1:00:13.513,1:00:15.403
and I said, "I've had him for seventeen

1:00:15.403,1:00:18.763
days, and I wouldn't trade those seventeen[br]days."

1:00:18.763,1:00:20.523
(Narrator) Finding the genetic defect

1:00:20.523,1:00:24.523
that causes CF was big news back in 1989.

1:00:25.943,1:00:27.783
News woman - Medical researchers say

1:00:27.783,1:00:29.613
they have discovered the gene which is

1:00:29.613,1:00:31.613
responsible for Cystic Fibrosis; the most

1:00:31.613,1:00:34.083
common inherited fatal disease in this[br]country.

1:00:34.083,1:00:36.043
Robert Dresing - We're going to cure this

1:00:36.043,1:00:36.793
disease...

1:00:36.793,1:00:38.753
(Narrator) A lot of people expected the

1:00:38.753,1:00:42.753
cure to arrive any day... it didn't.

1:00:42.753,1:00:44.663
Francis Collins, now head of the gov's

1:00:44.663,1:00:47.363
Genome Project, led one of the teams that

1:00:47.363,1:00:49.833
discovered the CF gene.

1:00:49.833,1:00:51.653
Francis - We still have not seen this

1:00:51.653,1:00:53.643
disease cured or even particularly

1:00:53.643,1:00:55.333
benefitted by all of this wonderful

1:00:55.333,1:00:57.303
molecular biology. CF is still treated

1:00:57.303,1:00:59.463
pretty much the way it was 10 years ago,

1:00:59.463,1:01:01.703
but that is going to change.

1:01:01.703,1:01:03.463
(Narrator) The original hope was that

1:01:03.463,1:01:05.983
babies like Riley could be cured by gene

1:01:05.983,1:01:08.363
therapy. Medicine that would provide a

1:01:08.363,1:01:11.733
good working copy of a broken gene, but

1:01:11.733,1:01:14.253
attempts at gene therapy have hardly ever

1:01:14.253,1:01:17.493
worked. They remain highly controversial,

1:01:17.493,1:01:19.233
so if there's gonna be an effective

1:01:19.233,1:01:21.513
treatment for Riley, instead of fixing his

1:01:21.513,1:01:24.393
genes, we're gonna take a look -- and this

1:01:24.393,1:01:28.043
is new territory -- at his proteins.

1:01:28.043,1:01:30.123
Narrator - What do proteins do?

1:01:30.123,1:01:32.083
Venter - When you look at yourself in the

1:01:32.083,1:01:34.013
mirror, you don't see DNA, you don't see

1:01:34.013,1:01:37.373
RNA... you see proteins and the result of

1:01:37.373,1:01:40.373
protein-action. That's what we are

1:01:40.373,1:01:41.863
physically composed of.

1:01:41.863,1:01:44.463
Narrator - So it's not a Rodgers and [br]Hammerstein thing

1:01:44.463,1:01:46.473
where one guy does the tune and the other

1:01:46.473,1:01:48.433
guy does the lyrics, this is a case where

1:01:48.433,1:01:50.233
the genes create the proteins and the

1:01:50.233,1:01:51.173
proteins create us.

1:01:51.173,1:01:52.703
Craig - That's right, we are the

1:01:52.703,1:01:54.463
accumulation of our proteins and our

1:01:54.463,1:01:56.583
protein activities.

1:01:56.583,1:01:58.583
(Narrator) A protein starts out as a long

1:01:58.583,1:02:01.343
chain of different chemicals, amino acids.

1:02:01.343,1:02:04.323
But, unlike genes, proteins won't work in

1:02:04.323,1:02:07.043
a straight line.

1:02:07.043,1:02:09.963
Francis - Genes are effectively[br]one-dimensional.

1:02:09.963,1:02:12.643
If you write down the sequence of A,C,G, [br]and T,

1:02:12.643,1:02:14.583
that's kinda what you need to know about

1:02:14.583,1:02:17.753
that gene. But proteins are 3-dimensional.

1:02:17.753,1:02:20.153
They have to be, because we're [br]3-dimensional and

1:02:20.153,1:02:22.233
we're made of those proteins, otherwise

1:02:22.233,1:02:25.473
we'd all sort of be linear, unimaginably

1:02:25.473,1:02:28.473
weird creatures.

1:02:28.473,1:02:30.423
(Narrator) Here's part of the protein.

1:02:30.423,1:02:33.613
Think of them as tangles of ribbon.

1:02:33.613,1:02:35.383
They come in any number of different

1:02:35.383,1:02:38.043
shapes. They can look like this, or like

1:02:38.043,1:02:43.383
this, or like this. The varieties are

1:02:43.383,1:02:46.983
endless. But, when it's created, every

1:02:46.983,1:02:49.953
protein is told, "Here is your shape."

1:02:49.953,1:02:52.653
and that shape defines what it does,

1:02:52.653,1:02:54.893
tells all the other proteins what it does,

1:02:54.893,1:02:56.813
and that's how they recognize each other

1:02:56.813,1:02:59.813
when they hook up and do business.

1:02:59.813,1:03:03.493
In the protein world, your shape is your

1:03:03.493,1:03:06.253
destiny.

1:03:06.253,1:03:08.783
Francis - They have needs and reasons to

1:03:08.783,1:03:10.503
want to be snuggled up against each

1:03:10.503,1:03:12.813
other in a particular way. And actually,

1:03:12.813,1:03:15.303
a particular amino acid sequence will

1:03:15.303,1:03:17.783
almost always fold in a precise way.

1:03:17.783,1:03:19.643
Narrator - Should I think origami-like?

1:03:19.643,1:03:21.453
When you're stretching, folding, and--

1:03:21.453,1:03:24.343
Francis - It's elegant, very complicated,

1:03:24.343,1:03:27.223
and we still do not have the ability to

1:03:27.223,1:03:29.293
precisely predict how that's going to

1:03:29.293,1:03:31.793
work, but obviously it does work.

1:03:31.793,1:03:33.823
(Narrator) Except, of course, if something

1:03:33.823,1:03:35.703
does go wrong, and that's what happened

1:03:35.703,1:03:38.883
to baby Riley.

1:03:38.883,1:03:42.323
Riley has a tiny error in his DNA, just

1:03:42.323,1:03:44.303
three letters out of three billion are

1:03:44.303,1:03:46.823
missing, but because of that error he has

1:03:46.823,1:03:49.043
a faulty gene, and that faulty gene

1:03:49.043,1:03:52.283
creates a faulty or misshapen protein.

1:03:52.283,1:03:54.623
And just the slightest little changes in

1:03:54.623,1:03:57.543
shape and "Boom" the consequences are

1:03:57.543,1:04:01.183
huge, because it is now misshapen and

1:04:01.183,1:04:03.123
a key protein that is found in the lung

1:04:03.123,1:04:07.123
cells can't do it's job. So, let's take a

1:04:07.123,1:04:09.583
look at some real lung cells, we'll travel

1:04:09.583,1:04:14.463
in. This is the lining, or the membrane

1:04:14.463,1:04:16.463
of a lung cell, and here's how the protein

1:04:16.463,1:04:19.823
is supposed to work. The top of your

1:04:19.823,1:04:21.643
screen is the outside of a cell, the

1:04:21.643,1:04:23.683
bottom the inside of the cell, of course,

1:04:23.683,1:04:26.133
and our healthy protein is providing a,

1:04:26.133,1:04:28.973
kind of chute so that salt can enter and

1:04:28.973,1:04:30.983
leave the cell. Those little green bubbles

1:04:30.983,1:04:34.183
that's salt and. as you see here, the salt

1:04:34.183,1:04:39.093
is getting through. But if the protein is

1:04:39.093,1:04:42.083
not the right shape, then it's not allowed

1:04:42.083,1:04:45.443
into the membrane; it can't do its job.

1:04:45.443,1:04:47.593
And, without that protein, as you see here

1:04:47.593,1:04:50.203
salt gets trapped inside the cell and that

1:04:50.203,1:04:52.563
triggers a whole chain of reactions that

1:04:52.563,1:04:55.293
makes the cell surface sticky and covered

1:04:55.293,1:04:59.293
with thick mucus.

1:05:00.143,1:05:02.063
Woman - The first two positions that are

1:05:02.063,1:05:04.063
done sitting up are probably a little more

1:05:04.063,1:05:04.943
difficult to do...

1:05:04.943,1:05:06.873
(Narrator) The mucus has to be dislodged

1:05:06.873,1:05:09.913
physically. Riley's family is learning to

1:05:09.913,1:05:11.673
loosen the mucus that may develop in

1:05:11.673,1:05:13.553
his lungs and fight infections with

1:05:13.553,1:05:14.833
antibiotics.

1:05:14.833,1:05:16.593
(Woman) You sort of wanna do it with

1:05:16.593,1:05:17.573
a cupped hand.

1:05:17.573,1:05:19.513
(Father) Trying to get at the top of the

1:05:19.513,1:05:21.833
lungs?[br]Woman - Yep, you wanna be like right here-

1:05:21.833,1:05:25.593
(Narrator) But what the doctors and the[br]scientists would love to do is, if they

1:05:25.593,1:05:29.683
can't fix baby Riley's genes, then maybe[br]there's someway to treat Riley's misshapen

1:05:29.683,1:05:33.683
protein and restore the original shape.

1:05:33.683,1:05:35.763
Because if you could just get them shaped

1:05:35.763,1:05:37.813
right, the protein should become instantly

1:05:37.813,1:05:40.173
recognizable to other proteins and get

1:05:40.173,1:05:43.373
back to business.

1:05:43.373,1:05:45.253
But, look at these things. How would we

1:05:45.253,1:05:47.853
ever learn to properly fold wildly

1:05:47.853,1:05:51.093
multi-dimensional proteins? It may

1:05:51.093,1:05:55.093
be doable, but it won't be easy.

1:05:55.093,1:05:56.853
Eric Lander - The Genome Project was

1:05:56.853,1:05:58.693
a piece of cake compared to most other

1:05:58.693,1:06:00.693
things, because genetic information is

1:06:00.693,1:06:03.173
linear. It goes in a simple line up and

1:06:03.173,1:06:05.503
down the chromosome. Once you start

1:06:05.503,1:06:08.003
talking about the 3-dimensional shapes

1:06:08.003,1:06:11.523
into which protein change can fold, and

1:06:11.523,1:06:13.443
how they can stick to each other in many

1:06:13.443,1:06:15.893
different ways to do things. Or the ways

1:06:15.893,1:06:17.973
in which cells can interact, like wiring

1:06:17.973,1:06:19.653
up in your brain... you're not in a

1:06:19.653,1:06:21.783
one-dimensional problem anymore. You're

1:06:21.783,1:06:25.783
not in Kansas anymore.

1:06:25.783,1:06:27.603
(Narrator) As the scientists head into

1:06:27.603,1:06:29.413
the world of proteins, they're looking

1:06:29.413,1:06:33.613
very closely at patients like Tony Ramos.

1:06:33.613,1:06:36.253
Tony has cystic fibrosis, but it's not the

1:06:36.253,1:06:40.253
typical case. CF almost always develops in

1:06:40.253,1:06:43.453
early childhood. Tony didn't have any

1:06:43.453,1:06:46.673
symptoms until she was 15.

1:06:46.673,1:06:49.243
Tony - I started having a cough, and then

1:06:49.243,1:06:51.313
we kept thinking I was catching a lot of

1:06:51.313,1:06:53.873
colds and my step-mother thought,

1:06:53.873,1:06:55.753
"Well, that's not right." So, I started

1:06:55.753,1:06:58.023
going to doctors, trying to figure it out.

1:06:58.023,1:07:02.503
And went through a lot of tests because[br]I don't fit the profile. Tuberculosis,

1:07:02.503,1:07:06.503
walking pneumonia, ya know, test after[br]test.

1:07:07.515,1:07:09.235
(Narrator) At the time of diagnosis,

1:07:09.235,1:07:10.965
Tony's family was told she might not

1:07:10.965,1:07:15.525
survive beyond her twenty-first birthday.

1:07:15.525,1:07:19.013
She's now in her mid-forties. But her CF

1:07:19.013,1:07:21.343
is worsening. 2 or 3 times a year she does

1:07:21.343,1:07:23.423
have to be admitted to the hospital to

1:07:23.423,1:07:26.793
clean out her lungs.

1:07:26.793,1:07:28.673
Tony - Ya know, they were always doing

1:07:28.673,1:07:33.053
some little funky study to help the cause,[br]because we're not the normal, ya know

1:07:33.053,1:07:35.763
there's not a whole lot of us. I know that

1:07:35.763,1:07:38.323
they don't know why, and it's the big

1:07:38.323,1:07:40.923
question mark, and hopefully research

1:07:40.923,1:07:43.473
will keep going and figure it out.

1:07:43.473,1:07:47.443
(Narrator) Here's the question: Tony was[br]born with a mistake in the same gene as

1:07:47.443,1:07:49.973
baby Riley, and yet for some reason, when

1:07:49.973,1:07:53.973
Tony was a baby, she didn't get sick. Why?

1:07:53.973,1:07:57.253
And now that she is sick, she hasn't died.

1:07:57.253,1:08:01.253
Why? What does Tony have that the other

1:08:01.253,1:08:04.073
CF patients don't have?

1:08:05.812,1:08:08.772
Dr. Craig Gerrard believes the answer lies

1:08:08.772,1:08:10.852
in her genes; in her DNA.

1:08:10.852,1:08:13.112
Dr. Gerrard - Good morning.[br]Tony - Good morning.

1:08:13.112,1:08:16.682
Dr. Gerrard - So, do you think the change[br]in the antibiotics is helping you?

1:08:16.682,1:08:18.642
Tony - Yes, and I've dropped four pounds

1:08:18.642,1:08:21.042
overnight.[br]Dr. Gerrard - (laughing) That's a lot of

1:08:21.042,1:08:21.982
weight.[br]Tony - Yeah!

1:08:21.982,1:08:24.052
Dr. Gerrard - Okay, mind if I have a[br]listen?

1:08:24.053,1:08:26.053
(Dr. Gerrard) - No gene acts in isolation,

1:08:26.053,1:08:29.153
it is always acting as a part of a larger

1:08:29.153,1:08:33.043
picture. And therefore, the other genes,

1:08:33.043,1:08:35.443
which compensate.

1:08:35.443,1:08:37.443
(Narrator) Could it be that Tony has some

1:08:37.443,1:08:39.883
other genetic mutations, good mutations,

1:08:39.883,1:08:42.643
that are producing good proteins, that

1:08:42.643,1:08:44.703
kept her healthy for 15 years and are

1:08:44.703,1:08:47.353
keeping her alive right now?

1:08:47.353,1:08:51.113
(Dr. Gerrard) You sound a lot better than[br]you did when you came in. So, I think

1:08:51.113,1:08:54.273
you're on the mend. Okay, hang in there.[br]Tony - Thanks, bye.

1:08:54.273,1:08:56.103
Dr. Gerrard - In my opinion, there are

1:08:56.103,1:08:59.083
genes that are allowing her to have a

1:08:59.083,1:09:03.083
more beneficial course, if you will, than

1:09:03.083,1:09:06.743
another patient.

1:09:06.743,1:09:10.493
Woman - You sound good.

1:09:10.493,1:09:12.373
(Narrator) Dr. Gerrard is searching for

1:09:12.373,1:09:16.213
the special ingredient in Tony. If it

1:09:16.213,1:09:18.563
turns out she has one or two proteins that

1:09:18.563,1:09:20.823
are helping her, maybe we could bottle

1:09:20.823,1:09:23.553
them and use them to help all CF patients,

1:09:23.553,1:09:25.603
like little Riley.

1:09:25.603,1:09:29.273
(Woman) If there was ever an emergency,[br]and I didn't know how to do it, and I

1:09:29.273,1:09:32.573
couldn't get in touch with you--[br](Narrator) No one can predict Riley's

1:09:32.573,1:09:36.363
future, or to what extent CF will affect[br]his life. But now that we are getting a

1:09:36.363,1:09:38.523
map of our genes, we'll be able to take

1:09:38.523,1:09:41.383
the next big step. Because, what genes

1:09:41.383,1:09:45.383
do, basically, is they make proteins.

1:09:46.108,1:09:48.128
Narrator - I get the sense that everybody

1:09:48.128,1:09:51.808
is getting out of the gene business, and[br]suddenly going into this new business

1:09:51.808,1:09:53.918
I hear about, called, "The Protein[br]Business."

1:09:53.918,1:09:57.288
There's even a new name, instead of[br]"The Genome" I'm hearing this other

1:09:57.288,1:09:59.278
name, "The Proteome".[br]Eric - The Proteome.

1:09:59.278,1:10:00.958
(Narrator) The Proteome.[br]Eric - Yes.

1:10:00.958,1:10:04.098
(Narrator) What is that?[br]Eric - Well, the genome is the collection

1:10:04.098,1:10:07.938
of all your genes and DNA. The proteome,[br]is the collection of all your proteins.

1:10:07.938,1:10:11.938
See, what's happening is, we're realizing[br]that if we wanted to understand life, we

1:10:11.938,1:10:14.158
had to start systematically at the bottom

1:10:14.158,1:10:16.198
and get all the building blocks. The first

1:10:16.198,1:10:18.838
building blocks are the DNA letters, from

1:10:18.838,1:10:21.578
them we can infer the genes. From the

1:10:21.578,1:10:24.518
genes we can infer the protein products

1:10:24.518,1:10:26.398
that they make, that do all the work of

1:10:26.398,1:10:28.628
the cell. Then we've gotta understand what

1:10:28.628,1:10:30.418
each of those proteins does, what its

1:10:30.418,1:10:32.458
shape is, how they interact with each

1:10:32.458,1:10:35.198
other, and how they make kind of circuits

1:10:35.198,1:10:37.208
and connections with each other. So,

1:10:37.208,1:10:39.408
in some sense, this is just the beginning

1:10:39.408,1:10:42.378
of a very comprehensive, systematic

1:10:42.378,1:10:45.768
program to understand all the components

1:10:45.768,1:10:48.168
and how they all connect with each other.

1:10:48.168,1:10:50.178
(Narrator) All the components and how they

1:10:50.178,1:10:52.548
connect. But how many components are

1:10:52.548,1:10:55.308
there? How many genes and how many

1:10:55.308,1:10:57.228
proteins do we have?

1:10:57.228,1:10:58.948
Eric - A real shock about the genome

1:10:58.948,1:11:01.528
sequence was that we have so many fewer

1:11:01.528,1:11:03.148
genes than we've been teaching our

1:11:03.148,1:11:05.408
students. The official textbook answer is

1:11:05.408,1:11:08.158
the human has a 100,000 genes. Everyone's

1:11:08.158,1:11:11.068
known that since the early 1980's, the

1:11:11.068,1:11:13.298
only problem is is it's not true. Turns

1:11:13.298,1:11:16.278
we only have 30,000 or so genes.

1:11:16.278,1:11:18.428
(Narrator) 30,000 genes, that's it? Not

1:11:18.428,1:11:20.258
everybody agrees with this number, but

1:11:20.258,1:11:24.828
that's about as many as a mouse. Even[br]a fruit-fly has 14,000 genes.

1:11:24.828,1:11:26.708
Eric - That's really bothersome to many

1:11:26.708,1:11:29.228
people that we only have about twice as

1:11:29.228,1:11:31.248
many genes as a fruit-fly, because we

1:11:31.248,1:11:33.288
really like to think of ourselves as a lot

1:11:33.288,1:11:35.328
more than twice as complex. Well, don't

1:11:35.328,1:11:37.328
you? I certainly like to think of myself

1:11:37.328,1:11:40.558
that way. And so, it raises two questions,

1:11:40.558,1:11:42.548
are we really more complex?

1:11:42.548,1:11:46.388
Narrator - You show me the fruit fly that[br]can compose like Mozart and then I'll--

1:11:46.388,1:11:48.438
Eric - Well, show me a human that can fly.

1:11:48.438,1:11:50.288
Right? So...[br](Narrator) Ooo (laughing)

1:11:50.288,1:11:52.608
Eric - (laughing) We all have our talents,[br]right?

1:11:52.608,1:11:54.648
(Narrator) I suppose we do, but as it

1:11:54.648,1:11:57.088
happens, we have lots of genes that are

1:11:57.088,1:12:00.728
virtually identical in us and fruit flies.

1:12:00.728,1:12:03.658
But, happily, our genes seem to do more,

1:12:03.658,1:12:07.238
so, let's say that I am a fruit fly. One[br]of

1:12:07.238,1:12:11.238
my fruit fly genes may make one and two

1:12:11.238,1:12:14.068
slightly different proteins, but now I'm a

1:12:14.068,1:12:16.548
human and the very same gene in me

1:12:16.548,1:12:20.878
might make one, two, three, four different

1:12:20.878,1:12:23.118
proteins, and these four proteins could

1:12:23.118,1:12:29.058
combine and build even bigger and more[br]proteins.

1:12:29.058,1:12:32.238
Eric - It turns out, that the gene makes a

1:12:32.238,1:12:35.318
message, but the message can be spliced up

1:12:35.318,1:12:37.428
in different ways. And, so, a gene might

1:12:37.428,1:12:39.988
make three proteins or four proteins

1:12:39.988,1:12:42.708
and then that protein can get modified.

1:12:42.708,1:12:44.658
There could be other proteins that stick

1:12:44.658,1:12:48.208
some phosphate group on it or two

1:12:48.208,1:12:52.698
phosphates groups. And, in fact, all these

1:12:52.698,1:12:55.308
modifications to the proteins could make

1:12:55.308,1:12:57.248
them function differently. So, while you

1:12:57.248,1:13:00.308
might only have 30,000 genes, you could

1:13:00.308,1:13:02.748
have 100,000 distinct proteins, and when

1:13:02.748,1:13:06.428
you're done putting all of the different[br]modifications on them, there might be

1:13:06.428,1:13:08.488
a million of them.[br](narrator clears throat)

1:13:08.488,1:13:09.208
Scary thought.

1:13:09.208,1:13:11.268
Narrator - So, starting with the same raw

1:13:11.268,1:13:16.258
ingredients, the fruit fly goes, "mmm,[br]spch, mmm, spch, mmm, spch."

1:13:16.258,1:13:19.238
but the human, by somehow or other, being

1:13:19.238,1:13:21.018
able to arrange all the parts in many

1:13:21.018,1:13:25.698
different ways, can produce melodies,[br]perhaps?

1:13:25.698,1:13:28.828
Eric - Yes, although we're not that good

1:13:28.828,1:13:31.578
at hearing the melodies yet. One of the

1:13:31.578,1:13:36.418
exciting things about reading the genome[br]sequence now, is we're getting a glimpse

1:13:36.418,1:13:39.348
at that complexity of the parts and how

1:13:39.348,1:13:42.428
it's a symphony, rather than a simple tune

1:13:42.428,1:13:46.278
but it's not that easy to just read[br]that sheet

1:13:46.278,1:13:48.858
music there and hear the symphony that's

1:13:48.858,1:13:51.268
coming out of it.

1:13:51.268,1:13:54.898
(Narrator) Okay, so it's not just the[br]number of genes, it's all the different

1:13:54.898,1:13:59.058
proteins they can make and the ways those[br]proteins interact, and to find out all of

1:13:59.058,1:14:01.378
those interactions and how they affect

1:14:01.378,1:14:03.608
health and disease, that's gonna keep

1:14:03.608,1:14:05.688
scientists very busy for the next few

1:14:05.688,1:14:08.678
decades. But, of course, before the

1:14:08.678,1:14:11.278
research can begin in earnest, they first

1:14:11.278,1:14:13.478
have to complete the parts list of all the

1:14:13.478,1:14:17.478
genes. And by the spring of 2000, both

1:14:17.478,1:14:20.098
sides, the public labs and Celera, they

1:14:20.098,1:14:23.418
were in hyper-drive. Each camp madly

1:14:23.418,1:14:26.338
trying to be first to reach the finish[br]line and get

1:14:26.338,1:14:30.338
all 3 billion letters.

1:14:30.338,1:14:32.278
(Gene Myers) The pace of things, and the

1:14:32.278,1:14:34.848
magnitude of things was really incredible.

1:14:34.848,1:14:36.728
I mean, I would remember coming in and

1:14:36.728,1:14:38.858
just having this gripping feeling in my

1:14:38.858,1:14:42.858
gut, just an intense, "Oh my God, am up to[br]this?"

1:14:45.020,1:14:47.130
Robert Cook-Degan - You know whoever has

1:14:47.130,1:14:48.860
this reference sequence to the human

1:14:48.860,1:14:50.940
genome out there in the world first...

1:14:50.940,1:14:53.750
they're going to be famous. They're gonna

1:14:53.750,1:14:55.830
be on the front page of The New York [br]Times,

1:14:55.830,1:14:57.840
and a lot more than that, for a long time.

1:14:57.840,1:15:01.210
And they're gonna be, ya know, [br]celebrities.

1:15:01.210,1:15:05.650
And, ya know, when that's going on, it's

1:15:05.650,1:15:07.610
not unreasonable that people are gonna

1:15:07.610,1:15:09.530
reach for that star and try to get there

1:15:09.530,1:15:13.530
before the other person.

1:15:13.530,1:15:15.730
(Tony White) I thought that the [br]really intense

1:15:15.730,1:15:19.330
Tony - competition of this world was[br]among business, where there is a profit

1:15:19.330,1:15:23.790
motive. I now find that we are pikers in[br]the business world, compared to the

1:15:23.790,1:15:27.010
academic competition that exists out[br]there.

1:15:27.010,1:15:31.010
And I'm beginning to understand why,[br]because their currency is publication.

1:15:31.010,1:15:33.290
Their currency is attribution. And their

1:15:33.290,1:15:37.290
next funding comes from their last [br]victory.

1:15:38.467,1:15:42.427
(Robert) I think we're all better off for[br]the fact that there is this competition.

1:15:42.427,1:15:45.362
What you want is a system that gets

1:15:45.362,1:15:47.432
people riled up and try to do something

1:15:47.432,1:15:51.432
faster, better, and cheaper than the next[br]guy.

1:15:53.268,1:15:55.088
(New Speaker, Male) The environment at

1:15:55.088,1:16:00.268
Celera was extremely intense and it[br]reminded me of finals week at Cal. Tech.

1:16:00.268,1:16:02.388
Man - And there's a tradition at Cal. Tech

1:16:02.388,1:16:05.188
that on the very first day of finals week,

1:16:05.188,1:16:07.848
the Ride of The Valkyries is played at[br]full blast.

1:16:07.848,1:16:09.688
And, so, I thought well, since every

1:16:09.688,1:16:11.768
week feels like it's finals week here, why

1:16:11.768,1:16:14.698
don't I play the ride and see what[br]happens?

1:16:14.698,1:16:16.618
So, we got a whole bunch of viking hats,

1:16:16.618,1:16:19.578
and we end up buying Nerf bows, because

1:16:19.578,1:16:23.578
we're Nordic Valkyrians. So, the next week

1:16:23.578,1:16:25.528
we're shooting each other, and we go,

1:16:25.528,1:16:29.248
"Ya know, there's something not right[br]about this." So, we decided the next week

1:16:29.248,1:16:33.888
that we would start doing raiding parties[br]and raid some of the other teams.

1:16:33.888,1:16:37.888
Unannounced to us, they had been preparing[br]themselves.

1:16:37.888,1:16:39.888
Man - Hey, you guys go to the back-stairs.

1:16:39.888,1:16:42.678
(Man) - They had little beanie caps, and

1:16:42.678,1:16:46.678
their own Nerf weapons and the war[br]started.

1:16:46.678,1:16:50.958
(shooting sounds)[br](Ride of the Valkyries music playing)

1:16:50.958,1:16:55.878
(shooting sounds)

1:16:55.878,1:16:58.668
(laughing)

1:16:58.668,1:17:02.668
(shooting)

1:17:09.198,1:17:13.988
(Man) It's just a release. It's a way of

1:17:13.988,1:17:15.948
dealing with the pressure, I think.

1:17:15.948,1:17:19.948
(laughing)[br](shooting)

1:17:24.596,1:17:26.566
(Man) We all ran like crazy for 5 or 10

1:17:26.566,1:17:30.566
minutes, and got a little physical[br]exercise.

1:17:32.582,1:17:35.522
And, had a few laughs and then we're

1:17:35.522,1:17:39.522
ready to really go after it.[br](laughing)

1:17:40.392,1:17:43.402
(Narrator) The Wagner seems to be working.

1:17:43.402,1:17:46.202
Output at Celera continues at a relentless

1:17:46.202,1:17:51.042
pace. Venter insists that the urgency

1:17:51.042,1:17:53.162
stems not only from a desire to beat

1:17:53.162,1:17:55.412
the government project, but the firm

1:17:55.412,1:17:57.292
belief that what's coming out of these

1:17:57.292,1:17:59.732
machines, all the C's, T's, G's, and A's,

1:17:59.732,1:18:03.732
will have a profound impact on all our[br]lives.

1:18:05.380,1:18:07.660
(Venter) It's a new beginning in science.

1:18:07.660,1:18:09.940
And, until we get all that data, that

1:18:09.940,1:18:12.460
can't really take place.[br]Venter - I mean anyone who

1:18:12.460,1:18:14.870
has cancer, anybody who has a family

1:18:14.870,1:18:18.020
member with a serious disease, this data

1:18:18.020,1:18:19.830
and information offers some tremendous

1:18:19.830,1:18:22.820
hope that things could change in the [br]future.

1:18:22.820,1:18:26.550
Eric Lander - In the past, if you wanted[br]to explain Diabetes, you always had to

1:18:26.550,1:18:30.430
scratch your head and say, "Well, it might[br]be something else that we've never seen

1:18:30.430,1:18:33.910
before." But knowing that you have the[br]whole parts list, radically changes

1:18:33.910,1:18:37.580
biomedical research. Because you can't[br]wave hand and say it might be something

1:18:37.580,1:18:40.380
else. There is no "something else".

1:18:40.380,1:18:43.380
(Man) 1, 2, 3, 4, 5 C's in a row.

1:18:43.380,1:18:46.150
(Narrator) In the past,[br]Narrator - Finding genes that cause

1:18:46.150,1:18:48.430
disease was a painstakingly slow process,

1:18:48.430,1:18:51.590
but, with the completion of a list, it

1:18:51.590,1:18:53.500
should be much easier to make a direct

1:18:53.500,1:18:57.840
connection from disease to gene. But how?

1:18:57.840,1:18:59.680
Well, let's say I'm looking for a gene

1:18:59.680,1:19:02.000
that causes something, we'll make it

1:19:02.000,1:19:04.480
Male Pattern Baldness, how would I go

1:19:04.480,1:19:06.680
about that. Well, I'd want to get a bunch

1:19:06.680,1:19:09.100
of bald guys. So, here are three bald guys

1:19:09.100,1:19:11.900
and take their blood and look at their

1:19:11.900,1:19:14.880
DNA. Now, I'll take three guys with lots

1:19:14.880,1:19:17.920
of hair, and here's their DNA. And, what

1:19:17.920,1:19:20.760
if the bald guys all share a particular

1:19:20.760,1:19:23.410
spelling right here in this spot, which we

1:19:23.410,1:19:26.400
will call, "The Bald Spot", and at the

1:19:26.400,1:19:28.920
same spot, you notice the hairy guys have

1:19:28.920,1:19:34.280
a different spelling. So, is this the gene

1:19:34.280,1:19:37.960
that causes baldness? Maybe, but probably

1:19:37.960,1:19:40.580
not. This could be a coincidence. So, how

1:19:40.580,1:19:42.610
do I improve my chances of finding the

1:19:42.610,1:19:44.790
specific spelling difference that relates

1:19:44.790,1:19:48.270
to baldness? It would help if I knew that

1:19:48.270,1:19:50.350
the bald guys, and the hairy guys had

1:19:50.350,1:19:54.350
really similar DNA, except for the genes

1:19:54.350,1:19:57.340
I suspect may make them bald or hairy.

1:19:57.340,1:19:59.420
Where do I find guys who are very very

1:19:59.420,1:20:02.700
similar with a few exceptions? A family

1:20:02.700,1:20:04.740
right? If they were brothers, and fathers,

1:20:04.740,1:20:06.740
and sons, and cousins, for instance, who

1:20:06.740,1:20:08.900
share lots of genes...

1:20:08.900,1:20:12.820
(Narrator) So, let's say these three guys[br]are brothers. Astonishing similarities,

1:20:12.820,1:20:16.820
really, in the face, but notice that one[br]of them is hairy and two are bald.

1:20:16.820,1:20:19.680
Whatever is making this one different,

1:20:19.680,1:20:22.030
should stand out when you compare their

1:20:22.030,1:20:25.190
genes. And same for these guys. There's

1:20:25.190,1:20:27.410
a difference clearly in the photos, but

1:20:27.410,1:20:30.970
that difference may turn up in the genes.

1:20:30.970,1:20:34.630
Narrator - You can do the same thing for[br]any disease that you'd like. So, if I

1:20:34.630,1:20:38.290
could comb through the DNA of lots of[br]people who are related, and I find some

1:20:38.290,1:20:41.840
of them are sick and some of them are[br]healthy, I might have a much better

1:20:41.840,1:20:47.130
chance of figuring out which genes are[br]involved. But where do I do this?

1:20:49.276,1:20:52.036
(Narrator) Well, one place is a little

1:20:52.036,1:20:54.916
island nation in the North Atlantic,

1:20:54.916,1:20:58.916
Iceland. In many ways, Iceland is the

1:20:58.916,1:21:00.796
perfect place to look for genes that

1:21:00.796,1:21:05.286
cause diseases. It's got a tiny population

1:21:05.286,1:21:08.436
only about 280,000 people, and virtually

1:21:08.436,1:21:10.556
all of them are descended from the

1:21:10.556,1:21:13.276
original settlers: Vikings who came here

1:21:13.276,1:21:15.716
over 1,000 years ago.

1:21:15.716,1:21:17.536
(music playing)

1:21:17.536,1:21:20.066
(Kari) If you drive around this country,

1:21:20.066,1:21:22.586
you will have great difficulties finding

1:21:22.586,1:21:25.176
any evidence of a dynamic culture that

1:21:25.176,1:21:27.586
was here for all of these 1,100 years.

1:21:27.586,1:21:29.626
There are no great buildings, there are

1:21:29.626,1:21:32.366
no monuments.

1:21:32.366,1:21:34.306
(Narrator) But, one thing Iceland does

1:21:34.306,1:21:36.346
have is a fantastic written history,

1:21:36.346,1:21:40.346
including almost everybody's family tree.

1:21:42.595,1:21:46.595
And now, it's all in a giant database.

1:21:46.595,1:21:49.275
Just punch in a social security number and

1:21:49.275,1:21:52.115
there they are, all of your ancestors,

1:21:52.115,1:21:54.675
right back to the original Viking.

1:21:54.675,1:21:56.535
Thordur - So, what we have here is my

1:21:56.535,1:21:59.425
ancestor tree. I'm here at the bottom,

1:21:59.425,1:22:02.785
this is my father and mother. My[br]grandparents,

1:22:02.785,1:22:04.985
great-grandparents, and so on. We

1:22:04.985,1:22:07.705
can find an individual that was one of

1:22:07.705,1:22:10.145
the original settlers of Iceland. Here we

1:22:10.145,1:22:13.535
have, "Ketill Bjarnarson" called,

1:22:13.535,1:22:15.905
"Ketill "flatnefur", meaning he had a

1:22:15.905,1:22:18.945
flat nose. So, he may have broken it in

1:22:18.945,1:22:21.425
a fight or something. And we estimate

1:22:21.425,1:22:25.425
that he was born around the year 805.

1:22:25.425,1:22:27.645
(music playing)

1:22:27.645,1:22:29.605
(Narrator) Kari Stephanson is a Harvard

1:22:29.605,1:22:31.645
trained scientist who saw the potentional

1:22:31.645,1:22:33.685
gold mine that might be hidden in

1:22:33.685,1:22:37.965
Iceland's genetic history. He set up a

1:22:37.965,1:22:40.526
company called, "Decode Genetics" to

1:22:40.526,1:22:42.366
combine age-old family trees with

1:22:42.366,1:22:44.646
state-of-the-art DNA analysis and computer

1:22:44.646,1:22:47.646
technology, and systematically hunt down

1:22:47.646,1:22:50.926
the genes that cause disease.

1:22:50.926,1:22:52.786
Kari - Our idea was to try to bring

1:22:52.786,1:22:55.386
together as much data on healthcare

1:22:55.386,1:22:58.316
as possible. As much data on genetics

1:22:58.316,1:23:01.196
as possible, and the genealogy, and simply

1:23:01.196,1:23:03.726
use the information tools to help us to

1:23:03.726,1:23:05.806
discover new knowledge. To discover

1:23:05.806,1:23:09.806
new ways to diagnose, treat, prevent[br]diseases.

1:23:11.475,1:23:13.425
(Narrator) One of Decode's first projects

1:23:13.425,1:23:18.665
was to look for the genes that might[br]cause Osteoarthritis.

1:23:18.665,1:23:20.585
Ryn Hydr Magnus Dotre had the

1:23:20.585,1:23:23.745
debilitating disease most of her life.

1:23:23.745,1:23:28.905
Ryn - The first symptoms appeared when I

1:23:28.905,1:23:32.905
was 12, and by the age of 14 my knees

1:23:32.905,1:23:37.705
hurt very badly. No one really paid any

1:23:37.705,1:23:41.495
attention, that's just the way it was.

1:23:41.495,1:23:44.575
But, by the age of 39, I'd had enough, so

1:23:44.575,1:23:49.205
I went to a Doctor.

1:23:49.425,1:23:52.025
(Narrator) Mrs. Magnus was never alone in

1:23:52.025,1:23:56.025
her suffering, she is one of 17 children.

1:23:56.025,1:23:58.385
11 of them were so stricken with arthritis

1:23:58.385,1:24:01.475
that they had to have their hips replaced.

1:24:01.475,1:24:03.615
This was exactly the kind of family that

1:24:03.615,1:24:07.135
Decode was looking for. They got

1:24:07.135,1:24:09.745
Mrs. Magnus and other members of her

1:24:09.745,1:24:12.235
family to donate blood samples for DNA

1:24:12.235,1:24:14.845
analysis. And to find more of her

1:24:14.845,1:24:17.145
relatives, people she'd never met,

1:24:17.145,1:24:19.305
Decode just entered her social security

1:24:19.305,1:24:22.335
number into their giant database and there

1:24:22.335,1:24:26.335
they were. But which of these people have

1:24:26.335,1:24:30.815
Arthritis? To find out, Stephanson asked

1:24:30.815,1:24:32.605
the government of Iceland to give his

1:24:32.605,1:24:34.965
company exclusive access to the entire

1:24:34.965,1:24:37.785
country's medical records. In exchange,

1:24:37.785,1:24:39.985
Decode would pay a million dollars a year

1:24:39.985,1:24:42.615
plus a share of any profits. That way,

1:24:42.615,1:24:44.775
Decode could link everything in their

1:24:44.775,1:24:47.695
computers: DNA, health records, and

1:24:47.695,1:24:49.965
family trees.

1:24:49.965,1:24:53.045
Stephanson - This idea was probably more

1:24:53.045,1:24:55.325
debated than any other issue in the

1:24:55.325,1:24:58.605
history of the republic. On the eve of

1:24:58.605,1:25:00.745
that parliamentary vote, on the bill,

1:25:00.745,1:25:03.345
there was an opinion poll taken that

1:25:03.345,1:25:05.345
showed that 75% of those that took a

1:25:05.345,1:25:07.345
stand on the issue, supported the

1:25:07.345,1:25:11.345
passage of the bill, 25% were against it.

1:25:11.345,1:25:13.605
(Narrator) Among that 25% against were

1:25:13.605,1:25:17.605
most of Iceland's doctors.

1:25:17.605,1:25:19.815
(Tomas Zoega) I first thought that there

1:25:19.815,1:25:22.615
was something fundamentally wrong

1:25:22.615,1:25:24.975
in all of this. They do know everything

1:25:24.975,1:25:27.585
about you. Not only about your medical

1:25:27.585,1:25:29.975
history, about your medical past, but now

1:25:29.975,1:25:34.715
have your gene, the DNA. They know about

1:25:34.715,1:25:38.715
your future, about something about your

1:25:38.715,1:25:41.075
children, and something about your elders.

1:25:41.075,1:25:43.655
Bjorn Gundmarsson - We find ourselves

1:25:43.655,1:25:45.795
paralyzed, because there is really nothing

1:25:45.795,1:25:48.755
we can do. Because the one who takes the

1:25:48.755,1:25:51.775
responsibility is the management of the

1:25:51.775,1:25:54.785
Health Center. If they give away this

1:25:54.785,1:25:58.105
information from the medical records, they

1:25:58.105,1:26:00.785
get money. And everybody needs money.

1:26:00.785,1:26:04.595
Healthcare really needs money.

1:26:04.595,1:26:06.605
Narrator - So, what's really the problem

1:26:06.605,1:26:10.395
here? Well, let's take a hypothetical[br]example, I'm gonna make all this up. Let's

1:26:10.395,1:26:14.075
pretend these are medical records of an[br]average person, all we'll suppose that

1:26:14.075,1:26:19.635
right here I see a HIV test, and then over[br]here is medication for anxiety after what

1:26:19.635,1:26:23.025
appears to be a messy divorce, and over

1:26:23.025,1:26:26.025
here a parent who died of Alzheimer's.

1:26:26.025,1:26:27.965
Now, this is all stuff that could happen

1:26:27.965,1:26:29.875
to anybody, but do you want it all in

1:26:29.875,1:26:32.525
a central computer bank, and do you

1:26:32.525,1:26:34.605
want it linked in the same computer

1:26:34.605,1:26:36.845
to all of your relatives? And to your own

1:26:36.845,1:26:39.925
personal DNA file? And should anybody have

1:26:39.925,1:26:41.995
to go on a fishing expedition through

1:26:41.995,1:26:46.365
your medical history, and your DNA?

1:26:46.365,1:26:48.325
(Narrator) Well, it may frightening, but

1:26:48.325,1:26:51.865
it also might work. Decode claims it's

1:26:51.865,1:26:53.665
discovered several genes that may

1:26:53.665,1:26:56.665
contribute to Osteoarthritis. So, this

1:26:56.665,1:26:58.875
approach, combining family trees, medical

1:26:58.875,1:27:01.075
records, and DNA could lead to better

1:27:01.075,1:27:04.335
drugs, or to cures for a whole range of

1:27:04.335,1:27:05.935
diseases.

1:27:05.935,1:27:07.805
Stephanson - To have all of the data in

1:27:07.805,1:27:10.245
one place so you can use the modern

1:27:10.245,1:27:13.125
information equipment, to juxtapose the

1:27:13.125,1:27:15.185
pieces of data and hope that the pieces

1:27:15.185,1:27:17.585
fit. It's an absolutely fascinating

1:27:17.585,1:27:18.625
possibility.

1:27:18.625,1:27:20.065
(printing sounds)

1:27:20.065,1:27:22.115
(Narrator) Stephanson says no one's forced

1:27:22.115,1:27:24.175
to do this, and there are elaborate[br]privacy

1:27:24.175,1:27:26.505
protections in place. No names are used,

1:27:26.505,1:27:29.235
social security numbers are encoded. He

1:27:29.235,1:27:31.335
also argues that the DNA part of the

1:27:31.335,1:27:34.225
database is voluntary.

1:27:34.225,1:27:37.715
Stephanson - The healthcare database[br]only contains healthcare information.

1:27:37.715,1:27:41.095
We can cross reference it with DNA

1:27:41.095,1:27:42.845
information, but only from those

1:27:42.845,1:27:45.635
individuals who have been willing to give

1:27:45.635,1:27:47.695
us blood, allowing us to isolate DNA,

1:27:47.695,1:27:50.025
genotype it and cross referencing it with

1:27:50.025,1:27:52.575
the database. Only from those who have

1:27:52.575,1:27:55.855
deliberately taken that risk. It's not

1:27:55.855,1:27:58.675
imposed on anyone, and no one who is

1:27:58.675,1:28:02.675
scared of it, ya know who is really afraid

1:28:02.675,1:28:06.675
of it, should come and give us blood.

1:28:06.675,1:28:08.505
(Narrator) DNA databases are popping

1:28:08.505,1:28:12.505
up all over the world, including the US.

1:28:12.505,1:28:15.385
They all have rules for protecting privacy

1:28:15.385,1:28:18.395
but they still make ethicists nervous.

1:28:18.395,1:28:22.545
(George Annas) I like to use the analogy[br]of the DNA molecule to a "future diary".

1:28:22.685,1:28:25.165
There's a lot of information in the DNA

1:28:25.165,1:28:28.785
molecule. The reason I call it a "future[br]diary",

1:28:28.785,1:28:30.785
is because I think it's that private.

1:28:30.785,1:28:32.715
I don't think anybody should be able to

1:28:32.715,1:28:36.345
open up your future diary, except you.

1:28:36.345,1:28:38.165
(Narrator) One rather bleak vision of

1:28:38.165,1:28:40.135
where all of this could lead it presented

1:28:40.135,1:28:43.175
in the Hollywood film, "GATTACA".

1:28:43.175,1:28:45.615
This is a world where everybody's DNA,

1:28:45.615,1:28:47.735
everybody's future diary, is an open

1:28:47.735,1:28:51.455
book. Everyone who can afford to has

1:28:51.455,1:28:54.375
their children made to spec. But what

1:28:54.375,1:28:56.695
happens to the poor slob who's conceived

1:28:56.695,1:28:58.775
the old fashion way?

1:28:58.775,1:29:00.455
(Boy from GATTACA film) I'll never

1:29:00.455,1:29:03.995
understand what possessed my mother[br]to her faith in God's hands rather than

1:29:03.995,1:29:08.725
those of her local geneticists.[br](baby crying)

1:29:08.725,1:29:11.085
Ten fingers, ten toes; that's all that

1:29:11.085,1:29:14.465
used to matter. Not now... now, only

1:29:14.465,1:29:17.405
seconds old, the exact time and cause of[br](suction noise)

1:29:17.405,1:29:20.825
my death was already known.

1:29:20.825,1:29:24.385
(baby crying)

1:29:24.385,1:29:26.445
Nurse - Neurological condition: 60%

1:29:26.445,1:29:30.445
probability. ADD: 89% probability.

1:29:30.445,1:29:35.925
Heart disorder....: 99% probability.

1:29:36.150,1:29:42.010
Life expectancy: 30.2 years.[br]Father - 30 years...

1:29:42.010,1:29:44.510
(Narrator) 30.2 years. The nurse seems to

1:29:44.510,1:29:46.510
know precisely what is going to happen to

1:29:46.510,1:29:48.870
this baby, which is ridiculous, right?

1:29:48.870,1:29:52.170
Never happen. Or... is it possible that

1:29:52.170,1:29:54.100
one day we will be able to look, with

1:29:54.100,1:29:56.620
disturbing clarity, into our future?

1:29:56.620,1:30:00.620
10, 20, even 70 years ahead...

1:30:01.550,1:30:03.790
George - That is one possible future,

1:30:03.790,1:30:06.430
where this becomes so routine that, at

1:30:06.430,1:30:09.050
birth, everyone gets a profile that goes

1:30:09.050,1:30:11.200
right to their medical record, one copy

1:30:11.200,1:30:13.640
goes to the FBI, so we have an [br]identification

1:30:13.640,1:30:17.150
system for all possible crimes in the US.

1:30:17.150,1:30:19.980
One copy goes to your grade school,

1:30:19.980,1:30:22.390
to the high school, to the college, to the

1:30:22.390,1:30:25.720
employer, the military. Like a horrific

1:30:25.720,1:30:28.220
future, although, I have to say there are

1:30:28.220,1:30:30.410
many in the Biotech industry and the

1:30:30.410,1:30:32.210
medical professions that think that's

1:30:32.210,1:30:34.370
a terrific future.

1:30:34.370,1:30:36.450
(Narrator) In fact, a lot of the [br]technology

1:30:36.450,1:30:40.450
already exists now, today.

1:30:40.450,1:30:42.560
These guys in the funny suits are making

1:30:42.560,1:30:46.030
"gene chips". The little needles are

1:30:46.030,1:30:49.020
dropping tiny, nearly invisible, bits of

1:30:49.020,1:30:53.320
DNA onto glass slides. And where do the

1:30:53.320,1:30:56.540
DNA come from? From babies. Thousands

1:30:56.540,1:31:02.180
of them. Each chip can support 80,000 DNA[br]tests.

1:31:03.738,1:31:05.428
Mark Schena - So, a single chip, in

1:31:05.428,1:31:08.048
principle, will allow you to test, say,

1:31:08.048,1:31:11.128
1,000 babies for 80 different human

1:31:11.128,1:31:13.788
diseases. So, within a few minutes, you

1:31:13.788,1:31:15.908
can have a readout for thousands, or even

1:31:15.908,1:31:19.548
tens-of-thousands of babies in a single[br]experiment.

1:31:19.548,1:31:21.628
(Narrator) Already, babies are routinely

1:31:21.628,1:31:23.838
tested for a handful of diseases, but with

1:31:23.838,1:31:26.318
gene chips, everybody could be tested for

1:31:26.318,1:31:29.188
hundreds of conditions.

1:31:29.188,1:31:31.168
Mark - Knowing is great. Knowing early is

1:31:31.168,1:31:35.168
even better. And that's really what the[br]technology allows us to do.

1:31:36.023,1:31:38.083
(Narrator) Well, taking a test and knowing

1:31:38.083,1:31:40.293
is great for the baby, anybody really,

1:31:40.293,1:31:42.293
as long as there's something you can do

1:31:42.293,1:31:43.613
about it.

1:31:43.613,1:31:45.533
Narrator - But think about this, because

1:31:45.533,1:31:48.453
sometimes there may be a test, but it

1:31:48.453,1:31:53.473
might take 20 years, or 50 years, 50 years

1:31:53.473,1:31:55.843
to find a cure. So, you could take the

1:31:55.843,1:31:57.933
tests, and you could learn that there is

1:31:57.933,1:32:00.053
a disease coming your way, but you can't

1:32:00.053,1:32:02.643
do a thing about it. Do you still wanna

1:32:02.643,1:32:05.133
know? Or, you could take the test, but

1:32:05.133,1:32:07.693
the test won't say that you're going to

1:32:07.693,1:32:10.083
get the disease. It will simply say that

1:32:10.083,1:32:14.083
you may get a disease. And, as you know,

1:32:14.083,1:32:15.843
there is a big difference between

1:32:15.843,1:32:19.843
"you will" and "you may".

1:32:19.843,1:32:23.303
(women talking in distance)

1:32:23.303,1:32:25.343
(Narrator) Lisa Capos and Lori Segal are

1:32:25.343,1:32:27.283
sisters who shared the wrenching

1:32:27.283,1:32:31.003
experience of cancer in the family. Way

1:32:31.003,1:32:34.033
back, there was three sisters in 1979.

1:32:34.033,1:32:36.133
The youngest of the three, Melanie, was

1:32:36.133,1:32:39.133
diagnosed with ovarian cancer.

1:32:39.133,1:32:41.263
(Lisa) When my sister was diagnosed, my

1:32:41.263,1:32:44.383
response was disbelief. She was

1:32:44.383,1:32:48.543
Lisa - 30 years old, and I'd never known

1:32:48.543,1:32:52.543
anybody of that age to have ovarian[br]cancer.

1:32:52.543,1:32:54.323
(Narrator) Melanie fought her cancer

1:32:54.323,1:32:58.713
for four years, but died in 1983.

1:32:58.713,1:33:01.023
It seemed an isolated piece of bad luck,

1:33:01.023,1:33:03.643
but then, just about a year later, Lisa

1:33:03.643,1:33:06.933
discovered that she had breast cancer.

1:33:06.933,1:33:09.793
She was only 34, but the cancer hadn't

1:33:09.793,1:33:12.013
spread, so the long-term outlook seemed

1:33:12.013,1:33:14.673
optimistic.

1:33:14.673,1:33:16.313
Lisa - I actually had a radiation

1:33:16.313,1:33:20.313
therapist, who was, tops in the field.

1:33:20.313,1:33:24.213
Wrote many books on breast cancer, and

1:33:24.213,1:33:27.923
was very optimistic. And what I remember

1:33:27.923,1:33:30.443
him saying was that he and I would grow

1:33:30.443,1:33:32.783
old together.

1:33:32.783,1:33:35.903
(Narrator) And Lisa was fine for 12 years,

1:33:35.903,1:33:37.823
and then she found another lump in the

1:33:37.823,1:33:39.663
same breast.

1:33:39.663,1:33:43.663
Lisa - It was the worst fear come true.

1:33:43.663,1:33:47.963
The first time I could hold onto hope,

1:33:47.963,1:33:49.963
the second time nobody was talking

1:33:49.963,1:33:53.963
with me about living to be old.

1:33:53.963,1:33:55.683
(Narrator) When Lisa discovered her

1:33:55.683,1:33:58.523
second cancer in 1996, scientists were

1:33:58.523,1:34:00.403
just beginning to work out the link

1:34:00.403,1:34:02.433
between breast and ovarian cancers

1:34:02.433,1:34:04.043
that run in families.

1:34:05.453,1:34:07.773
Mary Claire King was one of the scientists

1:34:07.773,1:34:09.753
who discovered the changes, or mutations

1:34:09.753,1:34:12.433
in two specific genes make a woman's

1:34:12.433,1:34:14.593
risk of breast and ovarian cancer much

1:34:14.593,1:34:18.363
higher. The genes are called, "BRCA-1" and

1:34:18.363,1:34:20.523
"BRCA-2"

1:34:20.523,1:34:23.193
Mary - BRCA-1 and BRCA-2 are perfectly

1:34:23.193,1:34:26.853
healthy, normal genes that all of us have.

1:34:26.853,1:34:28.983
But in a few families, mutations in these

1:34:28.983,1:34:32.503
genes are inherited.

1:34:32.503,1:34:34.723
(Narrator) - So, in a normal gene, we're

1:34:34.723,1:34:36.793
gonna spell it out for you here, letter by

1:34:36.793,1:34:38.673
letter, this is the normal sequence

1:34:38.673,1:34:46.543
ending, "GTAGCAGT". Now, we're gonna make

1:34:46.543,1:34:50.983
a copy. Now, we're gonna lose two of the

1:34:50.983,1:34:53.723
letters, just two, and then see, watch

1:34:53.723,1:34:55.883
them shift over. You see that? This new

1:34:55.883,1:34:58.063
configuration is a mutation which can

1:34:58.063,1:35:00.663
often cause breast cancer.

1:35:00.663,1:35:02.773
Mary - In the United States and Western

1:35:02.773,1:35:05.803
Europe, and Canada, the risk of developing

1:35:05.803,1:35:07.893
breast cancer for women in the population

1:35:07.893,1:35:11.133
as a whole, is about 10% over the course

1:35:11.133,1:35:13.223
of her lifetime. With, of course, most of

1:35:13.223,1:35:15.623
that risk occurring later in her life.

1:35:15.623,1:35:18.013
For a woman with a mutation in BRCA-1 or

1:35:18.013,1:35:20.633
BRCA-2, the lifetime risk of breast cancer

1:35:20.633,1:35:24.633
is about 80%. It's very high.

1:35:25.020,1:35:27.200
(Narrator) Right around the time of Lisa's

1:35:27.200,1:35:29.420
second bout of breast cancer, a test for

1:35:29.420,1:35:32.660
BRCA mutations became available. Lisa and

1:35:32.660,1:35:36.250
her sister, Lori, decided to be tested.

1:35:36.250,1:35:38.510
(Lori) I do remember the day that I went

1:35:38.510,1:35:41.190
to find out the results.

1:35:41.190,1:35:44.410
Lori - Panic, terror. I mean, what was I

1:35:44.410,1:35:50.830
gonna find out? Talking about the blood

1:35:50.830,1:35:52.810
surging through your temples, I mean

1:35:52.810,1:35:56.810
I just remember sheer terror.

1:35:56.810,1:35:59.530
(Narrator) Turns out, Lori was fine, but

1:35:59.530,1:36:02.110
Lisa discovered that she does carry a

1:36:02.110,1:36:06.890
BRCA mutation. It is not easy waking

1:36:06.890,1:36:08.990
up every morning, wondering if today's

1:36:08.990,1:36:11.390
the day you may get sick.

1:36:11.390,1:36:13.550
(Doctor) Any questions about the results

1:36:13.550,1:36:16.190
from the biopsy from April?

1:36:16.190,1:36:19.080
Lisa - No questions about the results,

1:36:19.080,1:36:21.120
again it feels like often my life is

1:36:21.120,1:36:23.720
dodging bullets...

1:36:24.627,1:36:26.557
(Narrator) With the second cancer, Lisa

1:36:26.557,1:36:29.027
had her right breast completely removed.

1:36:29.027,1:36:31.137
And then another operation to take out her

1:36:31.137,1:36:32.997
ovaries.

1:36:32.997,1:36:35.137
(Nurse) Just make a tight fist until I'm [br]in.

1:36:35.137,1:36:40.167
(Narrator) She also has a high risk of[br]cancer in her left breast. BRCA mutations

1:36:40.167,1:36:42.627
are relatively rare, and only cause maybe

1:36:42.627,1:36:45.957
only 5 or 10% of all breast cancer.

1:36:45.957,1:36:48.487
But knowing that there's a BRCA mutation

1:36:48.487,1:36:52.087
in the family affects everybody.

1:36:52.087,1:36:54.697
(Man) The gene doesn't go away. The time

1:36:54.697,1:36:57.477
passed since the last cancer doesn't buy

1:36:57.477,1:36:59.137
you the safety.

1:36:59.137,1:37:02.627
Man - And, the consequences run through

1:37:02.627,1:37:07.867
the family. And, I suppose, that, for my

1:37:07.867,1:37:11.207
daughter, who yet has not shown any

1:37:11.207,1:37:18.837
significant impact of this. The knowledge

1:37:18.837,1:37:20.817
that there's a genetic component that she

1:37:20.817,1:37:26.017
can't deny. Will, I'm sure, color her life

1:37:26.017,1:37:29.467
in serious ways.

1:37:29.467,1:37:31.927
(Narrator) Lisa's son, Justin, is 21. Her

1:37:31.927,1:37:35.927
daughter, Alana is 18. There is a 50/50

1:37:35.927,1:37:37.987
chance that each of them has inherited

1:37:37.987,1:37:41.177
the BRCA mutation from Lisa. The only way

1:37:41.177,1:37:44.057
to know, would be to take a test.

1:37:44.057,1:37:46.967
And when should they do that? When is the

1:37:46.967,1:37:48.847
right time?

1:37:48.847,1:37:52.667
Alana - I actually never really thought[br]about it until biology this year, when my

1:37:52.667,1:37:56.667
teacher posed a hypothetical, supposedly,[br]question to people saying, "What would

1:37:56.667,1:38:00.417
you do? Can you imagine what you would[br]do if you were faced with a situation

1:38:00.417,1:38:05.717
where you knew that you might have this[br]disease that would be deadly, or cause

1:38:05.717,1:38:08.217
you to be sick? And you could do a test

1:38:08.217,1:38:10.527
to find out whether or not you had it."

1:38:10.527,1:38:12.847
And I was sitting there in class saying,

1:38:12.847,1:38:15.237
"Maybe it's not so hypothetical."

1:38:15.237,1:38:19.237
(Narrator) And then in her senior year of[br]highschool, Alana felt a lump in her own

1:38:19.237,1:38:20.597
breast.

1:38:20.597,1:38:24.597
(Alana) I did have the, "Oh, it can't be[br]happening to me. Not yet." kind of thing.

1:38:24.597,1:38:26.607
I mean, I have the reservation in the

1:38:26.607,1:38:29.567
back of my mind[br]Alana - that eventually it may very well

1:38:29.567,1:38:32.207
happen to me. And, if it does, I'll fight

1:38:32.207,1:38:34.487
it then. I'll deal with it then, but I

1:38:34.487,1:38:36.917
don't expect, or I definitely didn't

1:38:36.917,1:38:38.917
expect for this to be happening to me

1:38:38.917,1:38:42.917
when I was 17 years old.

1:38:44.134,1:38:46.694
(Narrator) Alana's lump was not cancer.

1:38:46.694,1:38:48.774
And for now, she doesn't want the test.

1:38:48.774,1:38:50.794
Because, if she knew that she had the bad

1:38:50.794,1:38:52.954
gene, she'd only have two options:

1:38:52.954,1:38:54.914
The choice of removing her breasts and

1:38:54.914,1:38:57.334
ovaries to try to reduce her risk. Or just

1:38:57.334,1:39:01.334
to be closely monitored, and wait.

1:39:01.334,1:39:04.164
Lisa - She's followed every year. Seems

1:39:04.164,1:39:08.624
a little young to, ya know, have her have

1:39:08.624,1:39:10.734
to face that. On the other hand, it also

1:39:10.734,1:39:12.704
feels like the belt-and-suspenders

1:39:12.704,1:39:14.984
technique, and we just have to do

1:39:14.984,1:39:18.594
everything we can do.

1:39:18.594,1:39:20.404
(Narrator) In the next 20 years, this

1:39:20.404,1:39:23.834
family's predicament will become more[br]and more common as more and more

1:39:23.834,1:39:27.834
genes are linked to more and more diseases[br]and more tests become available. But we

1:39:27.834,1:39:32.274
will all have to ask, "Do we want to [br]know?"

1:39:32.274,1:39:34.854
And, when we know, can we live with an

1:39:34.854,1:39:40.384
answer that says, "Maybe... but maybe[br]not?"

1:39:40.384,1:39:42.544
(Lisa) Driving home from work today, I was

1:39:42.544,1:39:45.504
tuned into public radio. And there was a

1:39:45.504,1:39:47.904
professor of astronomy talking about a

1:39:47.904,1:39:49.884
brand new telescope to look into the

1:39:49.884,1:39:53.324
galaxies. And they're calling it the

1:39:53.324,1:39:57.324
equivalent of The Human Genome Project.

1:39:57.324,1:39:59.964
And I was thinking, "Hmm, not quite the

1:39:59.964,1:40:01.924
equivalent of The Human Genome Project."

1:40:01.924,1:40:05.284
because it's without some of the ethical,

1:40:05.284,1:40:09.924
moral angst, real-people issues, where,

1:40:09.924,1:40:11.984
it's a bit of a roller-coaster ride

1:40:11.984,1:40:14.724
between, ya know, this is gonna hold

1:40:14.724,1:40:16.774
answers, and hope, and treatments,

1:40:16.774,1:40:20.774
and interventions, and cure versus - it's

1:40:20.774,1:40:24.774
not clear what this all means.

1:40:27.419,1:40:29.739
(Narrator) And if things aren't clear now,

1:40:29.739,1:40:31.579
what about the future when we may not

1:40:31.579,1:40:35.219
only cure disease but do so much more.

1:40:35.219,1:40:39.219
(Doctor) Your extracted eggs are, Marie,

1:40:39.219,1:40:44.819
have been fertilized with Antonio's sperm.

1:40:44.819,1:40:47.549
You have specified Hazel eyes, dark hair,

1:40:47.549,1:40:51.139
and fair skin. All that remains is to

1:40:51.139,1:40:54.549
select the most compatible candidate.

1:40:54.549,1:40:56.549
I've taken the liberty of eradicating any

1:40:56.549,1:41:00.729
potentially prejudicial condition.[br]Premature baldness, myopia, alcoholism,

1:41:00.729,1:41:03.409
obesity, and so...[br]Woman - We didn't want... I mean...

1:41:03.409,1:41:06.619
diseases, yes, but um..[br]Man - Right, we were just wondering

1:41:06.619,1:41:08.699
if, if it's good to just leave a few

1:41:08.699,1:41:11.429
things to chance.[br]Doctor - We want to give your child the

1:41:11.429,1:41:13.619
best possible start.

1:41:13.619,1:41:16.139
Keep in mind, this child is still you.

1:41:16.139,1:41:19.109
Simply the best of you. You could

1:41:19.109,1:41:21.249
conceive naturally a thousand times and

1:41:21.249,1:41:24.409
never get such a result.

1:41:24.409,1:41:26.169
(Francis) GATTACA really raised some

1:41:26.169,1:41:28.409
interesting points. The technology that's

1:41:28.409,1:41:30.989
being described there is, in fact, right

1:41:30.989,1:41:33.839
in front of us or almost in front of us.

1:41:33.839,1:41:35.499
Narrator - That seems to me almost

1:41:35.499,1:41:37.429
extremely likely to happen. Cause, what

1:41:37.429,1:41:40.009
parent wouldn't want.. ya know, to

1:41:40.009,1:41:41.769
introduce a child that wouldn't have,

1:41:41.769,1:41:43.569
at least, be where all the other kids

1:41:43.569,1:41:44.429
could be?

1:41:44.429,1:41:48.229
Francis - That's why this scenario is[br]chilling. It portrayed a society where

1:41:48.229,1:41:50.879
genetic determinism had basically run

1:41:50.879,1:41:53.839
wild. I think society, in general, has

1:41:53.839,1:41:55.839
smiled upon the use of genetics for

1:41:55.839,1:41:57.909
preventing terrible diseases. But, when

1:41:57.909,1:41:59.969
you begin to blur that boundary of making

1:41:59.969,1:42:02.329
your kids genetically different, in a way

1:42:02.329,1:42:04.629
that enhances their performance in some

1:42:04.629,1:42:08.629
way, that starts to make most of us [br]uneasy.

1:42:09.872,1:42:11.842
(Narrator) What if we lived in the world

1:42:11.842,1:42:15.842
of Star Trek Voyager? Talk about uneasy.

1:42:16.263,1:42:18.783
Actress - Computer, access Belana Toras'

1:42:18.783,1:42:19.903
medical file.

1:42:19.903,1:42:22.123
(Narrator) Lieutenant Toras is 50% human

1:42:22.123,1:42:25.203
and 50% Klingon.[br]Actress - Project a holographic image of

1:42:25.203,1:42:29.203
the baby.[br](Narrator) She's also 100% pregnant.

1:42:29.715,1:42:32.105
Actress - Now extrapolate what the child's

1:42:32.105,1:42:35.625
facial features will look like at 12 years[br]old.

1:42:35.625,1:42:37.465
(Narrator) Like any caring parent, she

1:42:37.465,1:42:39.655
doesn't want her child to be teased. For

1:42:39.655,1:42:42.545
having a forehead that looks like... well,

1:42:42.545,1:42:45.385
like a tire tread.[br]Actress - Display the fetus genome.

1:42:45.385,1:42:49.385
Delete the following gene sequences.[br](Narrator) But here's the twist...

1:42:49.385,1:42:51.935
She can do something about it.

1:42:51.935,1:42:53.685
Actress - Extrapolate what the child

1:42:53.685,1:42:57.685
would look like with those genetic[br]changes.

1:42:57.685,1:43:00.305
(Narrator) Hmm, she threw in some blonde[br](music playing)

1:43:00.305,1:43:03.375
hair, too.[br]

1:43:03.375,1:43:05.595
And is this limit? Or, could we go even

1:43:05.595,1:43:08.615
further?[br]Actress - Save changes.

1:43:08.615,1:43:10.935
Narrator - If you can eventually isolate

1:43:10.935,1:43:14.055
all of these things, can you then build a

1:43:14.055,1:43:17.475
creature that has never existed before?

1:43:17.475,1:43:20.155
For example, I would like the eyesight of

1:43:20.155,1:43:22.535
a hawk. And I'd like the hearing of a dog.

1:43:22.535,1:43:24.455
Otherwise, I'm quite content exactly how

1:43:24.455,1:43:27.425
I am. So, could I pluck the eyesight and

1:43:27.425,1:43:30.135
the hearing and patch it in?

1:43:30.135,1:43:32.065
Eric - Well, we don't know. We really

1:43:32.065,1:43:36.065
don't know how that engineering occurs

1:43:36.065,1:43:37.825
and how we can improve on it. It'd be

1:43:37.825,1:43:40.585
very much like getting a pile of parts to

1:43:40.585,1:43:43.865
a Boeing 777, and a whole pile of parts

1:43:43.865,1:43:46.575
to an Airbus, and saying, "Well, I'm gonna

1:43:46.575,1:43:48.375
mix and match some of these, so it'll

1:43:48.375,1:43:52.235
have some of the properties... I'll make[br]it a little fatter, but I also wanna make

1:43:52.235,1:43:55.975
it a little shorter." By the time you were[br]done, you'd think you'd made lots of

1:43:55.975,1:43:59.735
clever improvements, but the thing[br]wouldn't get off the ground. It's a very

1:43:59.735,1:44:02.095
complex machine, and going in with a

1:44:02.095,1:44:04.935
monkey wrench to change a piece, odds

1:44:04.935,1:44:06.985
are, most changes we would make today,

1:44:06.985,1:44:10.985
almost ALL changes we'd make today would[br]break the machine.

1:44:10.985,1:44:14.845
(Narrator) We may not be able to[br]genetically modify humans or klingons,

1:44:14.845,1:44:17.825
yet. But we do do it to plants and animals

1:44:17.825,1:44:20.175
everyday. Look at this stuff, tobacco

1:44:20.175,1:44:23.415
plants with a gene from a firefly. And

1:44:23.415,1:44:25.965
they use that same insect gene to create

1:44:25.965,1:44:27.845
glowing mice.

1:44:27.845,1:44:29.925
Narrator - So, it's theoretically possible

1:44:29.925,1:44:32.115
that we could create humans with other

1:44:32.115,1:44:34.015
advantages that borrowed from other

1:44:34.015,1:44:36.425
creatures?[br]Eric - That's right, but the humility of

1:44:36.425,1:44:40.365
science right now is to appreciate how[br]little we know about how you could

1:44:40.365,1:44:43.125
even begin to go about that. That is the

1:44:43.125,1:44:45.155
difference between 20th century and

1:44:45.155,1:44:48.345
21st century biology, is, it's now our job

1:44:48.345,1:44:50.465
in this century to figure out how the

1:44:50.465,1:44:54.465
parts fit together.[br](music playing)

1:44:55.723,1:44:57.763
(Narrator) And just as the 20th century

1:44:57.763,1:45:00.163
was winding down, the race to finish the

1:45:00.163,1:45:02.863
genome was full throttle. The competitive

1:45:02.863,1:45:05.973
juices were flowing.

1:45:05.973,1:45:09.973
Venter - I am competitive, but, when the

1:45:09.973,1:45:12.023
social order doesn't allow you to make

1:45:12.023,1:45:15.443
progress, and it doesn't for most people,

1:45:15.443,1:45:17.903
I said, "To hell with the social order,

1:45:17.903,1:45:20.673
I'll find a new way to do it."

1:45:20.673,1:45:22.713
(Tony White) It changed the paradigm on

1:45:22.713,1:45:25.343
people, and people don't like that.

1:45:25.343,1:45:27.143
Tony - It was very offensive to these

1:45:27.143,1:45:28.823
people. "How dare they?" Ya know,

1:45:28.823,1:45:31.323
rain on our parade, this is our turf.

1:45:31.323,1:45:35.603
Eric - This was a challenge to the whole[br]idea of public generation of data. That's

1:45:35.603,1:45:38.693
what offended people, was that we really

1:45:38.693,1:45:40.933
felt deeply that these were data that had

1:45:40.933,1:45:42.933
to be available for everybody. And there

1:45:42.933,1:45:44.623
was an attempt to claim the public

1:45:44.623,1:45:47.063
imagination for the proposition that

1:45:47.063,1:45:49.143
these data were better done in some

1:45:49.143,1:45:51.043
private fashion and owned.

1:45:51.043,1:45:54.853
Tony - You wanna say, "Well, wait a[br]minute. Ya know, if you could do it in

1:45:54.853,1:45:58.273
two years, why weren't ya doing it in[br]two years? Why do we have to come

1:45:58.273,1:46:01.133
along to turn a 15 year project into a[br]two year project?"

1:46:01.133,1:46:04.833
Eric - I must say that The Human Genome[br]Project had a tremendous amount of

1:46:04.833,1:46:08.833
internal competition, even amongst the[br]academic groups. There's competition

1:46:08.833,1:46:11.333
amongst academic scientists, to be sure.

1:46:11.333,1:46:13.233
And more than anything, there's

1:46:13.233,1:46:16.893
competition against disease. There's a

1:46:16.893,1:46:19.513
strong sense that what we're trying

1:46:19.513,1:46:21.453
to find out is the most important

1:46:21.453,1:46:24.653
information that you could possibly get.

1:46:24.653,1:46:27.833
Tony - I don't know, I mean, I hope that[br]this will all go away.

1:46:27.833,1:46:31.023
(Narrator) In June of 2000, it kind of did

1:46:31.023,1:46:35.023
go away.[br](orchestral music playing)

1:46:39.474,1:46:41.754
The contentious race to finish the genome

1:46:41.754,1:46:44.494
came to an end.[br](Announcer) Ladies and gentlemen, the

1:46:44.494,1:46:47.374
President of the United States.

1:46:47.374,1:46:50.254
(Narrator) And the winner was...

1:46:50.254,1:46:52.414
Well, you probably heard, they decided

1:46:52.414,1:46:54.544
to call it a tie.

1:46:54.544,1:46:56.454
(Francis) I think both Craig and I were

1:46:56.454,1:46:59.154
really tired of the way in which the

1:46:59.154,1:47:02.224
representations had played out and wanted

1:47:02.224,1:47:05.904
to see that sort of put behind us. It was

1:47:05.904,1:47:08.554
probably not good for Celera, as a

1:47:08.554,1:47:11.474
business to have this image of being

1:47:11.474,1:47:13.444
sort of always in contention with the

1:47:13.444,1:47:15.364
public project. It certainly wasn't good

1:47:15.364,1:47:17.304
for the public project to be seen as

1:47:17.304,1:47:20.644
battling with the private sector[br]enterprise.

1:47:21.647,1:47:23.577
(Narrator) President Clinton, himself,

1:47:23.577,1:47:25.987
got the public guys and the Celera guys

1:47:25.987,1:47:28.667
to play nice, shake hands, and share

1:47:28.667,1:47:32.667
credit for sequencing the genome.[br](clapping)

1:47:36.503,1:47:38.423
President Clinton - Nearly two centuries

1:47:38.423,1:47:44.723
ago, in this room, on this floor, Thomas

1:47:44.723,1:47:47.943
Jefferson and a trusted aid spread out a

1:47:47.943,1:47:51.683
magnificent map. The aid was Merryweather

1:47:51.683,1:47:54.093
Louis and the map was the product of his

1:47:54.093,1:47:57.033
courageous expedition across the American

1:47:57.033,1:48:00.813
frontier, all the way to the Pacific.

1:48:00.813,1:48:03.223
Today, the world is joining us here in the

1:48:03.223,1:48:06.053
East Room, to behold a map of even greater

1:48:06.053,1:48:09.053
significance. We are here to celebrate the

1:48:09.053,1:48:11.773
completion of the first survey of the

1:48:11.773,1:48:14.673
entire human genome. Without a doubt,

1:48:14.673,1:48:16.593
this is the most important, most

1:48:16.593,1:48:20.593
wondrous map ever produced by humankind.

1:48:21.667,1:48:23.427
(Narrator) And what does this map the

1:48:23.427,1:48:25.367
President is talking about, what does it

1:48:25.367,1:48:26.237
look like?

1:48:26.237,1:48:27.927
Narrator - When we look across the

1:48:27.927,1:48:30.137
landscape of our DNA for the 30,000 genes

1:48:30.137,1:48:32.597
that make up a human-being, what do we

1:48:32.597,1:48:33.587
see?

1:48:33.587,1:48:36.747
Eric - The genome is very lumpy.[br]Narrator - Very lumpy?

1:48:36.747,1:48:39.507
Eric - Very lumpy, very uneven. You might

1:48:39.507,1:48:41.617
think if we have 30,000 genes they're

1:48:41.617,1:48:43.537
distributed kind of uniformly across the

1:48:43.537,1:48:46.017
chromosomes. Not so.

1:48:46.017,1:48:48.317
(music playing)

1:48:48.317,1:48:50.347
(Eric) They're distributed like people are

1:48:50.347,1:48:53.307
distributed in America. They're all

1:48:53.307,1:48:55.867
bunched up in some places, and then you

1:48:55.867,1:48:58.077
have vast plains that don't have a lot of

1:48:58.077,1:49:00.597
people in them.[br](car horn honking)

1:49:00.597,1:49:04.217
It's like that with the genes.

1:49:04.217,1:49:05.977
(music playing)

1:49:05.977,1:49:08.517
(Eric) There are really gene-dense regions

1:49:08.517,1:49:11.077
that might have 15 times the density of

1:49:11.077,1:49:15.077
genes. Sort of a New York City over here.

1:49:15.077,1:49:19.077
(music playing)

1:49:19.813,1:49:21.593
(Eric) And there are other regions that

1:49:21.593,1:49:23.913
might go for two-million letters, and

1:49:23.913,1:49:27.913
there's not a gene to be found in there.

1:49:29.732,1:49:31.442
Eric - The remarkable thing about our

1:49:31.442,1:49:33.242
genome, is how little "gene" there is

1:49:33.242,1:49:35.312
in it. We have three billion letters of

1:49:35.312,1:49:38.822
DNA, but only 1 to 1.5% of it is gene.

1:49:38.822,1:49:40.862
Narrator - 1.5%?

1:49:40.862,1:49:44.682
Eric - The rest of it, 99% of it, is[br]stuff.

1:49:44.682,1:49:46.582
Narrator - Stuff? This is the technical[br]term?

1:49:46.582,1:49:48.662
Eric - A technical term. More than half

1:49:48.662,1:49:53.132
of your total DNA is not really yours. It

1:49:53.132,1:49:57.572
consists of selfish DNA elements that

1:49:57.572,1:49:59.812
somehow got into our genomes about

1:49:59.812,1:50:02.132
a billion-and-a-half years ago, and have

1:50:02.132,1:50:04.012
been hopping around making copies of

1:50:04.012,1:50:06.422
themselves. To those selfish DNA elements,

1:50:06.422,1:50:10.482
we're merely a host for them.[br]Narrator - Wait a second...

1:50:10.482,1:50:12.512
Eric - They view the human being just as a

1:50:12.512,1:50:15.722
vehicle for transmitting themselves.[br]Narrator - Wait, wait, wait...

1:50:15.722,1:50:19.192
We have, in each and every one of our[br]cells that carry DNA, we have these

1:50:19.192,1:50:21.862
little... they're not beings, they're just

1:50:21.862,1:50:24.422
hitchhikers...[br]Eric - Yeah.

1:50:24.422,1:50:26.312
Hitchhiking hunks of DNA.

1:50:26.312,1:50:28.532
Narrator - And they've been in us for how[br]long?

1:50:28.532,1:50:30.652
Eric - About a billion or a half years[br]or so.

1:50:30.652,1:50:34.572
Narrator - And all they've done, as far as[br]you can say, is stay there and multiply?

1:50:34.572,1:50:36.052
Eric - Well, they move around.

1:50:36.052,1:50:37.772
Narrator - And what is that? What do

1:50:37.772,1:50:39.812
you call that? I mean, it's not an animal,

1:50:39.812,1:50:42.202
it's not a vegetable. It's just...

1:50:42.202,1:50:44.212
Eric - It's a gene that knows how to look

1:50:44.212,1:50:46.192
out for itself and nothing else.

1:50:46.192,1:50:48.332
Narrator - And it's just riding around[br]in us?

1:50:48.332,1:50:52.152
The majority of our genome is this stuff,

1:50:52.152,1:50:54.122
not us.[br]Narrator - Wow.

1:50:54.122,1:50:56.442
(music playing)

1:50:56.442,1:50:58.212
(Narrator) It is a little humbling to

1:50:58.212,1:51:02.192
think that we, the paragon of animals,

1:51:02.192,1:51:05.322
the architects of great civilizations,

1:51:05.322,1:51:07.422
are used as taxi cabs by a bunch of

1:51:07.422,1:51:09.422
freeloading parasites who could care

1:51:09.422,1:51:12.422
less about us, but, that's the mystery of

1:51:12.422,1:51:16.422
it all.[br](lightning)

1:51:16.422,1:51:20.422
(music playing)

1:51:24.704,1:51:26.604
(Eric) - You come away from reading the

1:51:26.604,1:51:28.674
genome, recognizing that we are so

1:51:28.674,1:51:31.434
similar to every other living thing on

1:51:31.434,1:51:32.974
this planet.

1:51:32.974,1:51:36.974
(music playing)

1:51:40.198,1:51:42.648
(birds chirping)

1:51:44.051,1:51:46.731
(Eric) And every innovation in us... we

1:51:46.731,1:51:49.091
didn't really invent it. These were all

1:51:49.091,1:51:51.651
things inherited from our ancestors.

1:51:51.651,1:51:55.651
(music playing)

1:51:57.331,1:51:59.831
(Eric) This gives you a tremendous

1:51:59.831,1:52:03.181
respect for life. It gives you a respect

1:52:03.181,1:52:06.261
for the complexity of life, the innovation

1:52:06.261,1:52:10.261
of life. And the tremendous connectivity

1:52:10.261,1:52:13.171
amongst all life on the planet.

1:52:13.171,1:52:17.171
(music playing)

1:52:21.156,1:52:23.756
(Narrator) We are, in a very real sense,

1:52:23.756,1:52:26.996
ordinary creatures. Our parts are

1:52:26.996,1:52:28.886
interchangeable with all the other

1:52:28.886,1:52:31.996
animals, and even the plants around us.

1:52:31.996,1:52:34.576
And yet, we know that there's something

1:52:34.576,1:52:38.576
about us that is truly extraordinary.

1:52:40.368,1:52:43.338
What it is, we don't know, but what it

1:52:43.338,1:52:46.918
does is, it let's us ask questions and

1:52:46.918,1:52:49.958
investigate, and contemplate the

1:52:49.958,1:52:52.468
messages buried in a molecule shaped

1:52:52.468,1:52:57.198
like a twisted staircase. That's what we,

1:52:57.198,1:53:04.148
and maybe we alone, can do. We can wonder.

1:53:04.148,1:53:08.148
(music playing)

1:53:10.101,1:53:12.071
(Narrator) This program raises many

1:53:12.071,1:53:13.951
difficult questions, and we do want to

1:53:13.951,1:53:16.061
know what you think. So, please logon

1:53:16.061,1:53:18.581
to Nova's website and take our survey.

1:53:18.581,1:53:20.781
Also, you can see how scientists pinpoint

1:53:20.781,1:53:23.511
a gene, find out how sequencing works,

1:53:23.511,1:53:27.511
and more at PBS.org or AmericaOnline,

1:53:27.511,1:53:30.391
keyword: PBS.

1:53:30.391,1:53:34.391
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1:53:35.847,1:53:44.087
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1:53:46.582,1:53:48.522
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1:53:59.849,1:54:02.809
By inserting just one gene, our food can

1:54:02.809,1:54:06.509
grow bigger, resist disease, and feed the[br]world.

1:54:06.509,1:54:08.049
(Man) This is a mass genetic

1:54:08.049,1:54:10.789
experiment that's going on in our diet.

1:54:10.789,1:54:12.759
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1:54:24.749,1:54:28.749
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1:54:33.373,1:54:35.573
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