(Narrator) When I look at this, and these are 3 billion
chemical letters. Instructions for a human
being, my eyes glaze over,
(laughing)
but when scientist, Eric Lander looks at
this, he sees stories.
(Eric) The genome is a storybook
that's been edited for a couple billion
years, and you couldn't take it
to bed like a 1,001 Arabian nights and
read a different story in the genome
every night.
(Narrator) This is the story of one of
the greatest scientific adventures ever.
And at the heart of it, is a small, very
powerful molecule, DNA.
For the past ten years, scientists
all over the world have been painstakingly
trying to read the tiny instructions
buried inside our DNA.
And now, finally, the human genome has
been decoded.
(Craig) We're at the moment the scientists
wait for. This is what we wanted to do.
We're now examining
and interpreting the genetic code.
(Francis) This is the ultimate
imaginable thing that one could do,
scientifically, is to go look at our
own instruction book, and then try
to figure out what it's telling us.
(Narrator) What it's telling us is so
surprising, and so strange, and so
unexpected.
(Narrator) 50% of the genes in a banana
are in us. (Eric) How different are you from a banana
I feel like I can say this with
some authority, very different
from a banana. (Eric) You may feel different from a
banana.
All the machinery for replicating your DNA, all the machinery for controlling
the cell-cycle, the cell surface, for making nutrients, all that's the same.
(Narrator) So what does any of this information have to do
with you, or me? Perhaps more than we
could possibly imagine.
Which one of us will get cancer, or arthritis, or Alzheimer's.
Will there be cures? Will parents in the future, be able to determine their
children's genetic destinies.
(Eric) We've opened the box here
that's got a huge amount of valuable information.
It is the key to understanding disease
and, in the long run, to curing disease.
But having opened it... we're also gonna
be very uncomfortable with that info
for some time to come.
(Narrator) Yes, some of the info
you're about to see will make you
very uncomfortable, on the other hand, some of it, I
think you will find amazing and hopeful.
I'm Robert Krulwich, and tonight, we will
not only report the latest discoveries of
the Human Genome Project, you will meet
the people who made those discoveries
possible, and who competed furiously to
be first to be done. And as you watch
our program on the human genome,
We will be raising a number of issues,
genes and privacy, genes and corporate profits,
genes and the odd similarity between you
and yeast. And we'd like to have your
thoughts on all these subjects, so please,
if you will, login to Nova's website. It's
located at PBS.org. It'll be there after the
broadcast, so do it after the broadcast,
where you can take a survey, the results will
be immediately available and continually
updated. We'll be right back.
♪ (Intro music playing) ♪
(Man) Major funding for Nova is provided
by the Park Foundation, dedicated to education
and quality television.
(Man) This program is funded, in-part, by
the Northwestern Mutual Foundation.
Some people already know, Northwestern Mutual can help plan
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Are you there yet?
Northwestern Mutual Financial Network.
(Woman) Scientific achievement is fueled
by the simple desire to make things clear.
Sprint PCS is proud to support Nova.
(Man) Major funding for this program is
provided by, "The National Science Foundation."
- America's investment in the future.
(Man) And by the Corporation For Public Broadcasting
and by contributions to your PBS station
from viewers like you.
Thank you.
(Narrator) To begin, let's go back 4-and-some billion years ago
to wherever it was that the first speck of
life appeared on Earth.
Maybe on the warm surface of a bubble.
That speck did something that's gone on, uninterrupted ever since.
It wrote a message. It was a chemical
message, that it passed to its children
and passed it on to its children, and
to its children, and so on.
The message has passed from the very first
organism, all the way down through time, to you and me.
Like a continuous thread, through all
living things.
It's more elaborate, now, of course, but
that message is, very simply, is the
secret of life.
And here is that message, contained in
this stunning little constellation of
chemicals, we call, "DNA".
You've seen it in this form, the classic
"Double Helix", but since we're gonna be
spending a lot of time talking about
DNA, I wondered what it looks like when
it's raw, ya know, in real life?
So, I asked an expert.
Eric Lander - DNA has a reputation for
being such a mystical, highfalutin sort of
molecule. All this information, your
future, your heredity, it's actually goop.
See, this here is DNA.
(Narrator) Professor Eric Lander is a
geneticist at MIT's Whitehead Institute.
(Eric) It's very very long strands of
molecules. These double helices of DNA, which, when you get them all
together, just look like little threads of cotton.
(Narrator) And these strands were
literally pulled from cells. Blood cells, maybe skin cells, of a human being.
Eric - Whoever contributed this DNA,
you can tell from this whether or not they
might be at early risk for Alzheimer's
disease. You can tell if they might be at
early risk for breast cancer.
And there's probably about 2,000 other
things you can tell, that we don't know
how to tell yet, but we'll be able
to tell. And it's, really, incredibly unlikely that you could tell
all that from this.
But, that's DNA for you.
That, apparently, is the secret of life,
just hanging off there on the tube.
(Narrator) And already, DNA has told
us things that no one, no one had expected.
It turns out that human beings have only
twice as many genes as a fruit fly.
Now how can that be?
We are such complex and magnificent creatures, and fruit flies, well, uh,
they're fruit flies.
DNA also tells us that we are more closely related to worms and to yeast than
most of us would ever have imagined.
But how do you read what's inside a molecule?
Well, if it's DNA, if you turn it so you
can look at from just the right angle,
you will see, in the middle, what
look like steps in a ladder.
Each step is made up of two chemicals,
"Cytosine" and "Guanine", or "Thymine" and "Adenine".
They come, always, in pairs called, "Base-Pairs" either C and G, or T and A,
for short.
This is, step-by-step, a code.
Three-billion steps long; the formula for
a human being.
We're all familiar with this thing.
This shape is very familiar.
(Eric) Double Helix. (Narrator) Double Helix.
First of all, I want to... this is my
version of a DNA molecule.
Is this, by the way, what it looks like?
(Eric) Well, ehm, give or take... a cartoon version of it.
I mean, a little like that, yeah.
(Narrator) So there are, in almost every cell in your body, if you look deep
enough, you will find this chain here?
Eric - Oh, yes, stuck in the nucleus of your cell.
Narrator - Now how small is this?
In a real DNA molecule, the distance
between the two walls is how wide?
Eric - Oh, golly.
(Narrator) Look at this, he's asking for help.
(laughing)
Eric -This distance is about 10 Angstroms.
(Narrator) That's one-billionth of a meter
when it's clumped up in a very particular way.
Eric - Well, no, it's curled up sort of like that, but, it's more than that.
You can't curl it up too much, bc these little negative charge things
will repel each other. So, you fold it on itself.
I'm gonna break your molecule..
Narrator - Yeah, don't break my molecule.
Eric - Ya know, ya got this and then it's folded up like this
and then those are folded up on top
of each other. And, so, in fact, if you
were to stretch out all of the DNA, it
would run, oh I don't know, thousands
and thousands of feet.
Narrator - Okay.
The main thing about this, is
the ladder, the steps of this ladder.
Narrator - If I knew it was "A" and "T" and "C" and "C" and "G" and "G" and "A"...
Eric - Oh, no, it's not "'G' and 'G', it's 'G' and 'C'. It's the grammar...
Narrator - If I could read each of the
individual ladders, I might find the
picture of... what?
Eric - Of your children.
This is what you pass to your children.
Ya know, people have known for 2,000 years that your kids look a lot
like you. Well, it's because you must pass
them something... Some instructions that
give them the eyes they have and hair
they have, and the nose shape they do.
The only way you pass it to them is in
these sentences. That's it.
(Narrator) And to show you the true power
of this molecule, we're gonna start with
one atom, deep inside.
We pull back and see it form its "A"'s and "T"'s and "C"'s and "G"'s and the
classic double spiral....
And then starts the mysterious process
that creates a healthy new baby.
♪ (music playing) ♪
And the interesting thing is that every
human baby, every baby born, is 99.9%
identical in it's genetic code to every
other baby.
So, the tiniest differences in our genes
can be hugely important.
Can contribute to differences in height,
physique, maybe even talents, aptitudes,
and it also explain what can break...
What can make us sick.
Cracking the code of those minuscule
differences in DNA, that influence health
and illness, is what the Human Genome Project is all about.
Since 1990, scientists all over the world
in university and government labs have
been involved in a massive effort to read
all three-billion A's, T's, G's, and C's
of human DNA.
They predicted it would take, at least
15 years. That was partly because, in the early days of the project,
a scientist could spend years, an entire
career, trying to readjust a handful of
letters in the human genome.
It took 10 years to find the one genetic
mistake that causes Cystic Fibrosis.
Another 10 years to find the gene for
Huntington's Disease.
15 years to find one of the genes that
increase the risk for breast cancer.
One letter at a time, painfully slowly,
frustratingly prone to mistakes, and
false leads.
We asked Robert Waterston, a pioneer in
mapping DNA, to show us the way it
used to be done.
(Robert) The original ladders for DNA
sequence, we actually read by putting a
little letter next to the band that we
were calling and then writing those
down on a piece of paper, or into the
computer after that.
Uh, it's horrendous.
(Narrator) And we haven't mentioned the
hardest part. This part here, magnified 50 thousand times, is an actual
clump of DNA Chromosome -17.
If you look inside, you find, of course,
hundred of millions of A's, and C's, and T's, and G's, but it turns out
that only about 1% of them are active
and important. These are the genes
that scientists are searching for.
So, somewhere in this dense chemical
forest, are genes involved in deafness,
Alzheimer's, cancer, cataracts, but where?
This is such a maze, scientists need a map.
But at the old pace, that would take close
to forever.
And then came the revolution.
In the last 10 years the entire process
has been computerized, that costed
hundreds of millions of dollars.
But now, instead of decoding only a few
hundred letters by hand in a day...
together, these machines can do 1,000 every second.
And that has made all the difference.
(Man) This is something that is gonna
go in the textbooks. Everybody knows that.
Everybody, when the Genome Project was
being born, was consciously aware of their
role in history.
(Narrator) Getting the letters out is, has been described as, finding the
blueprint of a human being, finding
the manual for a human being,
finding the code of a human being.
What's your metaphor?
Eric - Oh, golly gee. I mean, you can have
very highfalutin metaphors for this kind
of stuff. This is basically a parts list.
Blueprints and all these fancy names...
it's just a parts list.
It's just a parts list with a lot of parts.
If you take an airplane, a Boeing 777,
I think it has like a hundred-thousand
parts. If I gave you a parts list for the
Boeing 777, in one sense you'd know a
lot. You'd know a hundred-thousand
components that have gotta be there.
Screws and wires and rudders and things
like that. On the other hand, I bet you
wouldn't know how to put it together and
I bet you wouldn't know why it flies.
Well, we're in the same boat... We now
have a parts list. That's what The Human Genome Project is about.
It's about getting the parts list.
If you want to understand the plane,
you have to have the parts list, but
that's not enough to understand why
it flies. But, of course, you'd be crazy
not to start with the parts list.
And one reason it’s so important to understand all those parts is
to decode every letter of the genome,
Is because sometimes out of 3 billion base pairs in our DNA, just one single letter
can make a difference.
Alice and Tim Lord are parents of two-year-old Hayden,
Alice – good morning Tim – hey pumpkin
(Tim) – the two things that I think of the most about Hayden, which a lot of people .
got from him right from the beginning was that he was always very funny
Alice - Make your very very very serious face. I love you
(Tim) – he loved to smile and laugh, he used to guffaw this was later when he
was a year old he just found the funniest things hilarious he and I would just crack
each other up.
(Narrator) Hayden seemed to be developing normally but Allison began to notice
that some things were not quite right. Allison – I was very anxious all the time
with Hayden. I was certain things were not the same. I would see friends
changing the diaper of their child that was around the same age
and see the physical movement and the legs movement and
Hayden didn’t do that
♪ (Singing “Happy Birthday”) ♪
Narrator – Doctors told them that Hayden was just developing a bit slowly, but
by the time he turned a year old, it was clear that something serious was wrong.
he never crawled, he never talked, never ate with his fingers,
and he seemed to be going backwards, not progressing.
(Tim) – I remember the last time he laughed.
I took a trip with him out to buy a suit to a wedding that night
and we came back and it was really windy, he just loves to fill the wind,
so we had a great time. We came back and I brought them up on the couch and sat
next to him and he just kind of threw his head back and laughed.
Like, oh, what a fun trip! Ya, know...
It was the last time he was able to laugh, it’s really hard.
(Narrator) – it turned out that Hayden had Tay-Sachs disease. A genetic
condition that slowly destroys a baby’s brain
(Kolodny) – What happens is a baby appears normal at birth,
and over the course of the first year, begins to miss developmental milestones.
So at six months a child should be turning
over but is unable to sit up, to stand, to walk, to talk.
(Narrator) – Tay-Sachs disease begins at one infinitesimal spot on the DNA ladder
if just one letter goes wrong, say this cluster of atoms is a picture of that
letter. A mistake here can come down to just four atoms, that’s it.
But since genes create proteins, that error creates a problem
in this protein, which is supposed to dissolve fat in the brain. And now
the protein doesn’t work, so fat builds up, swells the brain, and
destroys critical brain cells. And all of this is the result of one
bad letter in that baby’s DNA.
Kolodny – in most cases it’s a single base change as we say, a letter
difference.
(Narrator) – One defective letter out of 3 billion. And no way to fix it.
Tay-Sachs is a relentlessly progressive disease. In the years since his
diagnosis Hayden has gone blind, can’t eat solid food, it’s harder for him to
swallow, he can’t move on his own, and he has seizures as many as 10
times a day.
Kolodny – for children with classical Tay-Sachs disease, there is only one
outcome. Children die by age 5 to 7. Sometimes even before age 5.
(Narrator) – as it happens, Tim has an identical twin brother. When Hayden
was diagnosed, that brother, Charlie went to New York to be with him.
Charlie’s wife Blythe had had been Allison’s roommate in college and
her best friend.
Blythe – Charlie called me on the phone and told me to Hayden had Tay-Sachs
and explained I went to the computer and looked it up and then just couldn’t
believe what I read. (Blythe and Taylor talking)
(Narrator) – Blythe and Charlie had a three-year-old daughter Taylor and a
baby girl named Cameron. Cameron was happy and healthy except for one
small thing. Blythe – on the NTSAD website it talks
about that typically between six and eight months is when the signs start
coming. But one of the early signs is that they startle easily and Hayden
had always had a heavy startle response. We noticed that Cameron
had a comparable startle response. Not as severe, but absolutely not
like Taylor had had. (Narrator) – as soon as she saw
that early warning sign on the Tay-Sachs website, Blythe went to get herself and
Cameron tested. (Charlie) – it was another week until we
got the final results on Cameron’s bloodwork. And then the Tuesday before
Thanksgiving, we went into our pediatrician’s office we had the results
that Blythe was a carrier and Cameron had Tay-Sachs
Blythe – all I said was “I’m sorry.” (Narrator) – Tay-Sachs is a very rare
disease that usually occurs in specific groups, like Ashkenazi Jews, but even
then the baby must inherit the gene from both parents. So even though
there is a Tay-Sachs test, the Lords had no reason to think they would be a risk.
And yet incredibly all four of them, Tim and Charlie and both their wives, were
carriers. That was an unbelievably bad role of the genetic dice.
Tim – Charlie and I are incredibly close and have been all our lives. And when I
think about him and Blythe having to go through this it seems really cruel
Charlie – I had already geared myself up to be my brother’s rock. And I couldn’t
imagine having to help him and go through it myself voice breaks
(Narrator) – for families like the Lords and for everybody, the Human Genome
Project offers the chance to find out early if we’re at risk for all kinds of
diseases. Tim Lord - I would like to see a really
aggressive push to develop a test for hundreds of genetic diseases, so that
parents could be informed before they start to have
children as to the dangers that faced them. I think it’s within our grasp, now
that we’ve mapped the human genenome, the information is there for people to
begin to sort through Tim – (talking to Hayden), “all right
pumpkin” (Tim) – they are horrible horrible
diseases. If there is any way you could be tested for a whole host of them and
not have them affect the child, I think it’s something
that we have to focus on
(Narrator) – Hayden Lord died a few months before his third birthday.
Narrator - what makes this story
especially hard to bear is we now know
that a loss that huge, and it was a
catastrophe by any measure, started
with a single error, a few atoms across,
buried inside a cell. Now, if something
so small could trigger such an enormous
result, is a perspective that is
incredibly frightening.
Except, that now geneticists have figured
out how to see many of these tiny errors
before they become catastrophes.
When you think about that, that's an
extraordinary thing, to spot a catastrophe
when it's still an insignificant dot in a cell.
Which is the promise of the Human Genome Project.
It is first and foremost, an early warning
system for a host of diseases, which
will give, hopefully, parents, doctors, and scientists an advantage
that we have never had before. When you
can see trouble coming way way before
it starts you have a chance to stop it
or treat it... eventually, you might cure it.
(Narrator) And that's why, when Congress
created the Human Genome Project in 1990, the challenge was
to get a complete list of our A's, T's, C's, and G's as quickly as possible.
So, the business of making tests,
medicines, and cures could begin.
They figured it would take about 15 years
to decode a human being, and at the time,
that seemed reasonable.
Until this man: scientist, entrepreneur,
and speed-boat enthusiast, Craig Venter,
decided that he could do it faster, much faster.
(Craig) It's like sailing. Once you have
two sailboats on the water going
approximately the same direction,
they're racing. And science works very
much the same way. If you have two labs
Craig - remotely working on the same thing,
one tries to get there faster, better, or
higher quality... something different, in part, because our society
recognizes only "First Place".
(Narrator) Back in 1990, Vinter was one
of many government scientists painstakingly decoding
proteins and genes, his focus was one
protein in the brain.
Vinter - I took 10 years to get the protein, and it took a whole year
to get 1,000 letters of genetic code.
(Narrator) For Venter, that was way too slow.
Narrator - So, you're sitting there thinking there must be
a better way when you were gazing out
the window.
Vinter - There HAD to be a better way.
(Narrator) And that's when he learned that
someone had invented a new machine that could identify C's and T's and A's
and G's with remarkable speed.
And Craig Venter just loves machines that
go fast.
Vinter - I immediately contacted the
company to see if I could get one of the first machines.
(Narrator) - And here's how they work:
Human DNA is chopped by robots into tiny
pieces. These pieces are copied over and
over again in bacteria and then tagged
with colored dyes.
A laser bounces light off of each snip of
DNA and the colors that it sees represent
individual letters in the genetic code.
And these computers can do this 24 hours
a day, everyday.
Venter - See, now you can see clearly the peaks.
So, there's just a blue on coming up so
that's a "C" coming up. You could read
this and you could write this all down.
(Narrator) So, blue, yellow, red, red, yellow...
Venter - So, that's C, G, T, T, A.
(Narrator) And, somehow all these little
pieces have to be put together again in the right order. Venter's dream was to
have hundreds of new machines at his
fingertips, so he quit is government job
and formed a company he called,
"Celera Genomics". "Celera", from the
Latin word, "Celerity", meaning, "Speed".
And this is what he built.
Narrator - Oh my Lord. And you know what's
interesting is there's almost nobody here.
Vinter - Yeah. It's all automated.
(Narrator) So, who is this guy and why's
he such a bulldog for speed?
Craig Venter grew up in California,
left high school and spent a year as a
surfing bum on the beach by day and
a stock-boy at Sears by night. He was
inevitably drafted, went to Vietnam with
the Navy. That's him way over there on
the left. He was eventually assigned to a
Naval Hospital in Denang during the
Tet Offensive, when the Americans were
taking very heavy casualties.
At 21, he was in the triage unit, where
they decide who will live, and who will die.
When you're young and you
Narrator - see a lot of people die, and
they could all be you, do feel like you
sort of owe them cures, cures that they'll
never get? Or am I over-romanticizing...
Vinter - Well, the motivation's become
complex, but that's certainly apart of it.
Also, I think surviving the year there was...
(emotional pause)
So, it puts things in perspective that
I think, if you're not in that situation,
you could never truly have that perspective.
Narrator - So, you hear ticking?
Vinter - Yeah... but also, I feel, that
I've had this tremendous gift for all
these years since I got back in 1968, and
I wanted to make sure I did something
with it.
(Narrator) In the spring of 1998, Venter
announced that he and his company were gonna
sequence all three billion letters of the
human genome in two years.
Remember, the government said it
was gonna take 15.
(Venter) There was a lot of arrogance
that went with that program
Vinter - they were gonna do it at their
pace, and a lot of the scientists, ya know, if they were really
being honest with you, would tell you that
they planned to retire doing this program.
You know, that's not what we think is the
right way to do science, especially
science that affects so many peoples' lives.
Robert - Craig's a high-testosterone male.
Who has, who loves to be an iconoclast, right?
He loves rattling peoples' cages. And he's
done that consistently in the genome project.
(Narrator) Craig Venter's announcement
that his team would finish the
entire genome in just two years, galvanized everybody working
on the public project. Now, they were
scrambling to keep up.
Man - There are some limitations,
we don't think we can this thing to go any faster at the moment without
throwing a lot more robotics at it. The arm physically takes 20 seconds
to move...
(Narrator) Francis Collins, the head of the Human Genome Project, was
determined that Celera was not gonna beat his teams to the prize. He made a
dramatic decision to try to cut five full years off of the original plan.
Eric - The okay way to do it...
(Francis) When the major genome centers met, and agreed to go for broke
here, I don't think there was anybody in
the room that was very confident we could
do that. I mean, you could sit down with
a piece of paper, and make projections,
if everything went really well, that might
get you there, but there were so many ways
this could have just run completely off the track.
(Narrator) At MIT, they decided to try to
scale up their effort 15-fold.
And that meant a major change in their
usual academic pace.
(Woman) We basically had a goal since
Woman - march to get to a plate emitted operation from womb-to-tomb all the
way through.
(Narrator) In the fall of 1999, representatives from the five
major labs come to check out Eric Lander's operation.
All the big honchos in the Human Genome Project are here.
Scientists from Washington University
in St. Louis, Baylor College of Medicine
in Texas, the Department of Energy,
she's from the Sanger Center in England.
If they want to finish the genome before
Craig Venter, these folks have to figure
out how to outfit their labs with a lot of
new, and fancy, and unfamiliar equipment,
and they've got to do it fast.
Woman - So, we'll have to run some kind
of a conduit...
(Narrator) At MIT, a different crate is
arriving almost daily.
Man - It's like Christmas, everyone unwrap something.
(Narrator) Just like a bad Christmas
present, assembly is required, and the
instruction are, of course, not always clear.
(Man) Oh no, the magnet-plates stick to each other?
Man - This is about, plus or minus three feet.
(laughing)
(Eric Landers) Since one's on the cutting- edge, I guess that they always call
Eric - it the "bleeding edge", right? Nothing,
really, is working as you would expect. All the stuff we're doing will be working
perfectly as soon as we're ready to junk it.
(Man) Right, right. (Narrator) The MIT crew is particularly
excited about their brand-new,
$300,000, state-of-the-art, DNA purifying machine.
Man - Alright, maiden voyage, it didn't ask me for a password, that's good.
On it goes.
Other man - Got the yellow light right away.
(Man) That's okay... (Narrator) I don't think the blinking
light is a good sign...
(Man) Looks like we have an air leak somewhere.
Uh oh, look at this.
(Man) It's cracked.
(Eric Landers) It's sort of like flying a
very large plane and repairing it while
you're flying. And you're trying to figure
out what went wrong.
And you also realize that you're spending
10's of thousands of dollars an hour,
so you feel under a little pressure
to sort of work this out as quickly as you can.
(Narrator) So, he calls the customer service line.
And of course, he's put on hold...
(music playing)
So, he waits...
And he waits...
Anyway, it turns out the the $300,000
machine does have one tiny little valve
that is broke, and so it doesn't work.
(Man) Alright...
(Eric) You never know whether the problem
is due to some robot, some funky bit of biochemistry, some
chemical that you've got that isn't really
working. And, so, it's incredibly complicated.
Woman - So, we have a transformation, where we transform a tenth of
our ligation...
Man - And add SDS to lice the phage.
Man - And all of our thermo-cyclers are three to four well plates.
(Man) So, if you basically determine your
Man - (inaudible scientific jargon ... and
give them each a different run module...
(Francis) Try to ramp something up... anything that's the slightest bit
cloogey suddenly becomes a major bottleneck.
Man - We talked about doing a full-out
test today and we weren't quite feeling good about doing that yet, so...
(Francis) There was a considerable sense
of white knuckles, because here we made
this promise, we were on the record here
saying we were gonna do this.
And things weren't working, the machines
were breaking down.
Woman - This is like... November?
Francis - And it's gotta work now. The time is running out.
Man - This is one of it's three inaugural runs and
(Man) it seems to be flawless, so far.
(Narrator) It took awhile, but the government teams finally hit
their stride.
(Francis) But the fall of that year was
really, sort of, the determining time.
The Center's really proved their mettle.
And every one of them began to catch
this rising curve, and ride it and we began to see data
appearing at prodigious rates.
Man - Do all...
(Francis) By early 2000's, a thousand
base pairs-per-second were rolling out of
this combined enterprise, seven days a week, 24 hours a day,
1,000 base pairs a second.
Then it really starts to go.
(Narrator) And those thousands of base pairs poured out of
university labs directly onto the internet.
(music playing)
(Narrator) Updated every night, it's
available for anyone, and everybody.
Including, by the way, the competition.
Man - Customers love our data...
(Narrator) Celera admits they got lots of
data directly from the government.
And Tony White, who runs the company
that owns Celera says, "Why not?"
Tony - That's publicly available data.
I'm a taxpayer, Celera's a taxpayer.
Ya know, why should we be excluded from
getting it? I mean, again, are they creating it
to give to all mankind except Celera?
Is that the idea, it isn't about us
getting the data, it's about this academic jealousy.
It's about the fact that our data, in
combination with theirs, give us a
perceived unfair advantage over this
so-called race.
Eric - If they wanna race us, that's their business.
I suppose they may.
(Narrator) I suspect strongly that they may.
Eric - Our job to get that data so that everybody can go use it.
(Narrator) Since Celera was sequencing the
genome with private money, some critics
wondered why should the government put
so much cash into the exact same research?
(Eric) In the United States, we invested in a National Highway system
in the 1950's. We got tremendous return
from building roads for free, and letting
everybody drive up and down them for
whatever purpose they wanted. We're
building a road up and down the chromosomes... for free.
People can drive up and down those
chromosomes from whatever they need
to. They can make discoveries, they can
learn about medicine, they can learn
about history, whatever they want.
It is worth the public investment to
make those roads available.
(Narrator) Wait a second, what I really
want to know is if you're making a roadmap
of a human being, which human beings are
we mapping? I mean humans come in so many
varieties, so whose genes, exactly, are
we looking at?
Eric - Yeah, it's mostly a guy from Buffalo and a woman from
Buffalo. That's because the laboratory--
Narrator - Whoa, whoa, wait... An anonymous couple from
Buffalo?
Eric - No, they're not a couple. They've
never met. The laboratory was a
laboratory in Buffalo. So, they put an ad
in the Buffalo newspapers, and they got
random volunteers from Buffalo.
They got about 20 of them, and chose
at random the sample, and that sample,
and that sample, so nobody knows who
they are.
(Narrator) And what about Celera?
Whose DNA are they mapping?
They also got a bunch of volunteers,
around 20, and picked five lucky winners
Craig - We tried to have some diversity,
in terms of, if we had an African American
or somebody's self-proclaimed Chinese
history, two Caucasians, and a Hispanic.
So, some of the volunteers were here
on the staff...
Narrator - I have to ask, cause everybody
does, are you one of them?
Craig - I am one of the volunteers, yes.
Narrator - Do you know whether or not you're one
of the winners?
I have a pretty good idea, yes, but I
can't disclose that, because it doesn't
matter.
Narrator - Well, if you're the head of
the company and you're watching the decoding of muah. That has a little
Miss Piggy quality to it.
Craig - Well, any scientist that I know
would love to be looking at their own
genetic code. I mean, how could you not
want to in this field?
(Narrator) Well, I don't know, I don't
work in this field. But I do wonder, can
any small group, and could that guy
from Buffalo, could he really be a stand-in
for all humankind?
Hasn't it been drummed into us since
birth that we're all... different? Each
and every one of us, completely unique.
We certainly look different.
People come in so many shapes, and
colors, and sizes... The DNA of these
humans has got to be significantly
different than the DNA of this human. Right?
Eric - The genetic difference between any
two people is 1/10th of a percent.
Those two, and any people on this planet,
are 99.9% identical at the DNA level.
It's only one letter in a thousand difference.
Narrator - And if I were to bring,
secretly into another room, a black man,
an Asian man, and a white man, and
show you only their genetic code,
could you tell which one was the white one?
Eric - I could not.
What's going on? Well, it tells us that,
first, as a species, we are very very
closely related. Cause any two human
beings being 99.9% identical, means that
we are much more closely related than
any two chimpanzees in Africa.
(Narrator) Wait, wait, you mean if two
chimpanzees are swinging through the
forest, and you look at the genes of
chimp A, and you look at the genes
of chimp B...
Eric - Average difference between those
chimps, is 4 - 5 times more than the
average between two humans that you
could pluck off this planet.
(Narrator) Because we're such a young species?
(Eric) That's right.
See, the thing is, we are the descendants
of a very small founding population.
Every human on this planet goes back
to a founding population of, perhaps,
10 or 20 thousand people in Africa.
About 100,000 years ago.
That little population didn't have a great
deal of genetic variation, and what
happened was, it was successful; it
multiplied all over the world, but in that
time, relatively little new genetic
variation is built up. So, we have today
on our planet, about the same genetic
variation that we walked out of Africa
with.
(Narrator) So, people are incredibly
similar to each other. But not only that,
it turns out that we also share many
genes with, well, everything.
50% of the genes of a banana are different from us?
Eric - How different are you from a banana?
Narrator - I feel, and I feel like can say
this with some authority, very different
from a banana.
Eric - You may feel different from - Narrator - I eat a banana but I-
Eric - Look, you've got cells, you've
gotta make those cells divide. So, all
the machinery for replicating your DNA,
all the machinery for controlling the
cell-cycle, the cell's surface, for making
nutrients, all that's the same in you and
a banana.
(Eric) Deep down, the fundamental mechanisms of
life were worked out only once on this planet.
And they've gotten reused in every organism.
The closer and closer you get to a
cell, the more you see a bag with
stuff in it and a nucleus and most of
those basic functions are the same.
Evolution doesn't go reinvent something
when it doesn't have to.
(music playing)
Take baker's yeast, baker's yeast, we're
related to one-and-a-half billion years
ago. But even even after one-and-a-half
billion years of evolutionary separation,
the parts are still interchangeable for
lots of these genes.
Narrator - Now, does that mean, I want to understand,
does that mean when you look through
those things, that all the C's, A's, T's,
T's, and the G's, are you seeing the same
exact same letter sequences in the
exact same alignment? When you look at
the yeast and you look at the person, is
it the same?
Eric - Sometimes it's eerie. The gene
sequence is nearly identical. There are
some genes, like Ubiquitin, that's 97%
identical between humans and yeast,
even after a billion years of evolution.
Narrator - Well, with a name like that,| it's gotta be...
Eric - Well, yeah, but you gotta
understand that deep down we are very
much partaking of that same bag of tricks
that evolution's been using to make
organisms all over this planet.
(Narrator) It seems incredible, but all
this information about evolution, about
our relationship to each other, and to all
living things, it's all right here in this
monotonous stream of letters. And as the
Human Genome Project progressed, and
hit high gear, the pace of discovery
quickened.
Once, they got fully automated, it wasn't
long until Lander, and Collins, and all
the other public project teams had reason
to celebrate.
Francis - I'm Francis Collins, the
Director of the National Human Genome
Research Institute, and we are happy to be
here together to have a party today.
(Narrator) By November of 1999, they had
reached a major milestone. In a five-way
award ceremony, hooked up by
satellite, the major university teams
announced they had finished a billion
base pairs of DNA. A third of the total
genome.
(corks popping)
(Eric) Have we got everybody?
Eric Lander - I would like to propose
a toast. A billion base pairs, all on the
public internet, available to anybody in
the world. It's an incredible achievement.
It hasn't been completely painless. (laughing)
And, because, I know everybody in this
room is living and breathing and thinking
every single moment of the day about how
to make all this happen... how we can hit
full-scale. I want to be sure you realize
what a remarkable thing we pulled off.
I hope you also know that this is history.
Whatever else you do in your lives, you're
apart of history. We're apart of an
amazing effort on the part of the world to
produce. And it isn't gonna be like the
moon, where we just visit occasionally.
This is gonna be something that every
student, every doctor uses, everyday in
the next century, and the century after
that. It's something to tell your kids
about. Something to tell your
grand-kids about. It's something you
should all be tremendously proud of.
I'm tremendously proud of you.
A toast, to this remarkable group.
To the work we've done. To the work ahead.
Hear, hear.
Everyone - Hear, hear.
(Whistling)
(Narrator) Everybody here is hoping the
genome project will help cure disease.
And the sooner it's done, the better for
all of us.
(inaudible)
(Narrator) But there's something more than
idealism, more than even pride that's
driving this race to finish the genome.
And that's the knowledge that with every
day that passes, more and more pieces
of our genome are being turned into
private property by way of the U.S. Patent Office.
(printing machine noises)
Woman - I said property.
(Narrrator) The office is inundated with
requests for patents for every imaginable
invention. From Star Wars action figures
to jet engines.
(paper shuffling sounds)
And here, along with all those gizmos, are
requests for patents for human genes.
Things that exist naturally in every one
of us. How is this possible?
(Todd) We regard genes as a patent-able
subject matter, as we regard almost any
chemical. We have issued patents on a
number of compounds and compositions
that are found in the human body.
For example, the gene that encodes insulin
has been patented, and that now has been
used to make almost all of the insulin
that is made. So, people's lives are being
saved today. Diabetics' lives are better.
As a matter of fact, if we ruled out every chemical that's found in the human body
there'd be an awful lot of inventions that would not be able to be protected.
(Narrator) Generally, to patent an
invention you've got to prove that it's
new and useful. But a few years ago
critics said that the patent office
wasn't being tough enough, so applicants
would say, "Well, here's a brand new
sequence of A's, C's, T's, and G's right
out of our machine's. That's new."
Now, "useful", wonder what they're gonna
be used for? Well, they were kind of vague
about use, says Eric Lander.
Eric - The sort of thing that people used
to do then was they would say that, "It
could be used as a probe to detect itself."
It's a trivial use. I mean it's like
saying, "I could use this new protein as
packing peanuts to stuff in a box."
I mean, it's true- Narrator - Well, wouldn't the patent
examiner say, "Well, that's not useful." Eric - No, no, no, you see, you the patent
guidelines are very unclear. I don't object to giving someone that limited time
of monopoly when they've really invented a cure for a disease; some really
important therapy. I do object to giving a monopoly when
somebody has simply described a couple
hundred letters of a gene, but has no idea
what use it could have in medicine...
cause what's happen is you've given away that precious monopoly to someone who's
done just a little bit of work, and then the people who come along and want to
do a lot of work to turn it into a therapy, well... they've gotta go pay the
person who already owns it. I think it's a bad deal for society.
(Narrator) It takes at least two years for
the patent office to process a single
application. So, right now, the patent
office says there are about 20,000 genetic
patents waiting for approval. All of them
are in limbo. This can cause problems for
drug companies who are trying to work
with genes to cure disease.
Narrator - I'm a company trying to do
work on this, this, and this rung of the
ladder. Eric - Right
Narrator - Cause I think that I can maybe
develop a cure for cancer, right here, for the sake
of arguing. But, of course, I have to
worry that somebody owns this space.
Eric - Oh, you have to worry a lot, that
this region here that you're working on that might cure cancer, has already been
patented by somebody else. And that patent filing is not public, and so you're
living with the shadow that all of your
work may go for naught.
Narrator - Because one day the phone
rings and says, "Sorry, you can't work here. Get off my territory."
Eric - That's right. Narrator - Or, you can work here, but I'm
gonna charge you $100,000 a week. Or, you can work here and I'll charge you
a nickel, but I want 50% of whatever you discover.
Eric - And the problem there is, it's even worse, because many companies don't start
the work whenever there's a cloud over
who owns that. If there's uncertainty,
companies would rather be working
some place where they don't have uncertainty.
And, therefore, I think, work doesn't get
done, because of the confusion over who
owns stuff.
(Narrator) Supporters of patents say they
are a crucial incentive for drug companies.
Drug research is phenomenally expensive
but if a company can monopolize a big
discovery with a patent, it can make
hundreds of millions of dollars.
Research scientists suddenly find
themselves in an unfamiliar world, ruled
by big money.
(Sheldon) Every scientist that does is research
now being looked upon as a generator of
wealth. Even if that person is not
interested in it. If they sequence some
DNA, that could be patent-able material.
So, whether the scientist likes it or not,
he or she becomes an entrepreneur just
by virtue of doing science.
(Narrator) Craig Venter is first a scientist
but he has made the leap from academia
into the business world.
Narrator - Let me talk about the business
of this. Do you consider yourself a
business man?
Craig - No, in fact, I still, sort of
bristle at the term for some reason.
But my philosophy is, we would not get medical
breakthroughs in this country, at all, if
it wasn't done in a business setting.
We would not have new therapies if we
didn't have a biotech and pharmaceutical
industry.
Narrator - But are they... if you bristle
at the word "businessman", that might be
because in some part of your soul, you may
think that the business of science and the
business of business are fundamentally
incompatible for one simple reason:
that the business has to sell something
and the science has to learn, or teach,
something.
Craig - I think I bristle at it because
it's used as an attack. It's used as a
criticism. In this case, if the science is
not spectacular, if the medicine is not
spectacular, there will be no profits.
(Narrator) Venter was given $300,000,000
to set up Celera, and his investors are
expecting something in return.
But how can they profit from the genome?
At the moment, the company is banking on
pure computer power.
This is Celera's master control.
24 hours a day, technicians monitor all
the company's major operations, including
the hundreds of sequencers that are
constantly decoding our genes.
And they oversee Celera's main source of
income: a massive website, where, for a
fee, you can explore several genomes,
including those of fruit flies, mice, and,
of course, humans. What all this
adds up to is something like a big
browser. A user-friendly interface between
you and your genes.
Tony White - Our business is to sell
products that enable research. That's
essentially what we do. So, we're used to
selling the picks and the shovels to the
miners. Tools to interpret the human
genome and other related species.
Or, merely more products along the
same genre, they just happen to be less
tangible than a machine.
(Narrator) So, Celera's business plan is
to gather information from all kinds of
creatures, put it together, and sell their
findings to drug companies, or
universities, or whomever. But it's the
selling part, selling scientific
information, that makes some scientists
very uncomfortable.
Todd - This is a big change in the ethos
of the scientific community, which is,
supposedly, it was built upon the idea of
community values of the free and open
exchange of information. The fundamental
idea that when you learn something, you
publish it immediately, you share it with
others. Science grows by this community
interest of shared knowledge.
Tony - I think, why doesn't Pfeiffer give
away their drugs? They could help a lot
more people if they didn't charge for them.
Man - At what point is "free" really free?
(Narrator) Tony White has absolutely no
problem with making money from the human genome.
Tony - I hope we have a legal monopoly on
the information. I hope the product is so
good, and so valuable to people, that they
feel that it's necessary to come through
us to get it.
Anybody who wants to can build all the
tools that we're gonna build. Whether or
not they will choose to is a different
matter.
Narrator - Which is the better business to be in, do you think? The landlord
business? Or this, "You subscribe and I'll give you some information about
anything you want business."
Eric - They're both lousy businesses. (Narrator laughing) Lousy?
Eric- They're lousy businesses by
comparison with the real business: Make drugs.
Actually make molecules that cure people.
Narrator - curing people is the whole
point, right? But if there is one thing
that the Human Genome Project has
taught us, is that finding cures is a
whole lot harder than simply reading
letters of DNA.
(Narrator) Take for example, the case of
little Riley Demoush.
(baby sounds)
At two months, Riley appears to be
a perfectly healthy baby boy, but he's not.
When Riley was just 13 days old, Kathy
got the call that every parent dreads.
Kathy - The pediatrician called on a
Thursday evening, and he said, "I need
to talk to you about the baby."
He said, "Are you sitting down?"
I'm like, "Yeah." And that really suprised
me. And he said, "Are you holding the
baby." Because he didn't want me to drop
the baby, obviously.
And he said, "The tests came through, and
Riley tested positive to cystic fibrosis."
And I was in shock.
(Narrator) As Kathy and her husband
would soon learn, Cystic Fibrosis, "CF"
for short, attacks several organs of the
body, but especially the lungs.
It's victims suffer from chronic
respiratory infections, and half of all
CF patients die before the age of 30.
David Waltz - To think that we can still
be hopeful that their child will grow up
to have a normal, healthy, happy, and long
life. But at the present time, I don't
have any guarantees about that.
Kathy - Someone had asked me, "Are you
prepared to bury your son at such a young
age, whether it's four or 40?" And he was
seventeen days old when that happened
and I said, "I've had him for seventeen
days, and I wouldn't trade those seventeen days."
(Narrator) Finding the genetic defect
that causes CF was big news back in 1989.
News woman - Medical researchers say
they have discovered the gene which is
responsible for Cystic Fibrosis; the most
common inherited fatal disease in this country.
Robert Dresing - We're going to cure this
disease...
(Narrator) A lot of people expected the
cure to arrive any day... it didn't.
Francis Collins, now head of the gov's
Genome Project, led one of the teams that
discovered the CF gene.
Francis - We still have not seen this
disease cured or even particularly
benefitted by all of this wonderful
molecular biology. CF is still treated
pretty much the way it was 10 years ago,
but that is going to change.
(Narrator) The original hope was that
babies like Riley could be cured by gene
therapy. Medicine that would provide a
good working copy of a broken gene, but
attempts at gene therapy have hardly ever
worked. They remain highly controversial,
so if there's gonna be an effective
treatment for Riley, instead of fixing his
genes, we're gonna take a look -- and this
is new territory -- at his proteins.
Narrator - What do proteins do?
Venter - When you look at yourself in the
mirror, you don't see DNA, you don't see
RNA... you see proteins and the result of
protein-action. That's what we are
physically composed of.
Narrator - So it's not a Rodgers and Hammerstein thing
where one guy does the tune and the other
guy does the lyrics, this is a case where
the genes create the proteins and the
proteins create us.
Craig - That's right, we are the
accumulation of our proteins and our
protein activities.
(Narrator) A protein starts out as a long
chain of different chemicals, amino acids.
But, unlike genes, proteins won't work in
a straight line.
Francis - Genes are effectively one-dimensional.
If you write down the sequence of A,C,G, and T,
that's kinda what you need to know about
that gene. But proteins are 3-dimensional.
They have to be, because we're 3-dimensional and
we're made of those proteins, otherwise
we'd all sort of be linear, unimaginably
weird creatures.
(Narrator) Here's part of the protein.
Think of them as tangles of ribbon.
They come in any number of different
shapes. They can look like this, or like
this, or like this. The varieties are
endless. But, when it's created, every
protein is told, "Here is your shape."
and that shape defines what it does,
tells all the other proteins what it does,
and that's how they recognize each other
when they hook up and do business.
In the protein world, your shape is your
destiny.
Francis - They have needs and reasons to
want to be snuggled up against each
other in a particular way. And actually,
a particular amino acid sequence will
almost always fold in a precise way.
Narrator - Should I think origami-like?
When you're stretching, folding, and--
Francis - It's elegant, very complicated,
and we still do not have the ability to
precisely predict how that's going to
work, but obviously it does work.
(Narrator) Except, of course, if something
does go wrong, and that's what happened
to baby Riley.
Riley has a tiny error in his DNA, just
three letters out of three billion are
missing, but because of that error he has
a faulty gene, and that faulty gene
creates a faulty or misshapen protein.
And just the slightest little changes in
shape and "Boom" the consequences are
huge, because it is now misshapen and
a key protein that is found in the lung
cells can't do it's job. So, let's take a
look at some real lung cells, we'll travel
in. This is the lining, or the membrane
of a lung cell, and here's how the protein
is supposed to work. The top of your
screen is the outside of a cell, the
bottom the inside of the cell, of course,
and our healthy protein is providing a,
kind of chute so that salt can enter and
leave the cell. Those little green bubbles
that's salt and. as you see here, the salt
is getting through. But if the protein is
not the right shape, then it's not allowed
into the membrane; it can't do its job.
And, without that protein, as you see here
salt gets trapped inside the cell and that
triggers a whole chain of reactions that
makes the cell surface sticky and covered
with thick mucus.
Woman - The first two positions that are
done sitting up are probably a little more
difficult to do...
(Narrator) The mucus has to be dislodged
physically. Riley's family is learning to
loosen the mucus that may develop in
his lungs and fight infections with
antibiotics.
(Woman) You sort of wanna do it with
a cupped hand.
(Father) Trying to get at the top of the
lungs? Woman - Yep, you wanna be like right here-
(Narrator) But what the doctors and the scientists would love to do is, if they
can't fix baby Riley's genes, then maybe there's someway to treat Riley's misshapen
protein and restore the original shape.
Because if you could just get them shaped
right, the protein should become instantly
recognizable to other proteins and get
back to business.
But, look at these things. How would we
ever learn to properly fold wildly
multi-dimensional proteins? It may
be doable, but it won't be easy.
Eric Lander - The Genome Project was
a piece of cake compared to most other
things, because genetic information is
linear. It goes in a simple line up and
down the chromosome. Once you start
talking about the 3-dimensional shapes
into which protein change can fold, and
how they can stick to each other in many
different ways to do things. Or the ways
in which cells can interact, like wiring
up in your brain... you're not in a
one-dimensional problem anymore. You're
not in Kansas anymore.
(Narrator) As the scientists head into
the world of proteins, they're looking
very closely at patients like Tony Ramos.
Tony has cystic fibrosis, but it's not the
typical case. CF almost always develops in
early childhood. Tony didn't have any
symptoms until she was 15.
Tony - I started having a cough, and then
we kept thinking I was catching a lot of
colds and my step-mother thought,
"Well, that's not right." So, I started
going to doctors, trying to figure it out.
And went through a lot of tests because I don't fit the profile. Tuberculosis,
walking pneumonia, ya know, test after test.
(Narrator) At the time of diagnosis,
Tony's family was told she might not
survive beyond her twenty-first birthday.
She's now in her mid-forties. But her CF
is worsening. 2 or 3 times a year she does
have to be admitted to the hospital to
clean out her lungs.
Tony - Ya know, they were always doing
some little funky study to help the cause, because we're not the normal, ya know
there's not a whole lot of us. I know that
they don't know why, and it's the big
question mark, and hopefully research
will keep going and figure it out.
(Narrator) Here's the question: Tony was born with a mistake in the same gene as
baby Riley, and yet for some reason, when
Tony was a baby, she didn't get sick. Why?
And now that she is sick, she hasn't died.
Why? What does Tony have that the other
CF patients don't have?
Dr. Craig Gerrard believes the answer lies
in her genes; in her DNA.
Dr. Gerrard - Good morning. Tony - Good morning.
Dr. Gerrard - So, do you think the change in the antibiotics is helping you?
Tony - Yes, and I've dropped four pounds
overnight. Dr. Gerrard - (laughing) That's a lot of
weight. Tony - Yeah!
Dr. Gerrard - Okay, mind if I have a listen?
(Dr. Gerrard) - No gene acts in isolation,
it is always acting as a part of a larger
picture. And therefore, the other genes,
which compensate.
(Narrator) Could it be that Tony has some
other genetic mutations, good mutations,
that are producing good proteins, that
kept her healthy for 15 years and are
keeping her alive right now?
(Dr. Gerrard) You sound a lot better than you did when you came in. So, I think
you're on the mend. Okay, hang in there. Tony - Thanks, bye.
Dr. Gerrard - In my opinion, there are
genes that are allowing her to have a
more beneficial course, if you will, than
another patient.
Woman - You sound good.
(Narrator) Dr. Gerrard is searching for
the special ingredient in Tony. If it
turns out she has one or two proteins that
are helping her, maybe we could bottle
them and use them to help all CF patients,
like little Riley.
(Woman) If there was ever an emergency, and I didn't know how to do it, and I
couldn't get in touch with you-- (Narrator) No one can predict Riley's
future, or to what extent CF will affect his life. But now that we are getting a
map of our genes, we'll be able to take
the next big step. Because, what genes
do, basically, is they make proteins.
Narrator - I get the sense that everybody
is getting out of the gene business, and suddenly going into this new business
I hear about, called, "The Protein Business."
There's even a new name, instead of "The Genome" I'm hearing this other
name, "The Proteome". Eric - The Proteome.
(Narrator) The Proteome. Eric - Yes.
(Narrator) What is that? Eric - Well, the genome is the collection
of all your genes and DNA. The proteome, is the collection of all your proteins.
See, what's happening is, we're realizing that if we wanted to understand life, we
had to start systematically at the bottom
and get all the building blocks. The first
building blocks are the DNA letters, from
them we can infer the genes. From the
genes we can infer the protein products
that they make, that do all the work of
the cell. Then we've gotta understand what
each of those proteins does, what its
shape is, how they interact with each
other, and how they make kind of circuits
and connections with each other. So,
in some sense, this is just the beginning
of a very comprehensive, systematic
program to understand all the components
and how they all connect with each other.
(Narrator) All the components and how they
connect. But how many components are
there? How many genes and how many
proteins do we have?
Eric - A real shock about the genome
sequence was that we have so many fewer
genes than we've been teaching our
students. The official textbook answer is
the human has a 100,000 genes. Everyone's
known that since the early 1980's, the
only problem is is it's not true. Turns
we only have 30,000 or so genes.
(Narrator) 30,000 genes, that's it? Not
everybody agrees with this number, but
that's about as many as a mouse. Even a fruit-fly has 14,000 genes.
Eric - That's really bothersome to many
people that we only have about twice as
many genes as a fruit-fly, because we
really like to think of ourselves as a lot
more than twice as complex. Well, don't
you? I certainly like to think of myself
that way. And so, it raises two questions,
are we really more complex?
Narrator - You show me the fruit fly that can compose like Mozart and then I'll--
Eric - Well, show me a human that can fly.
Right? So... (Narrator) Ooo (laughing)
Eric - (laughing) We all have our talents, right?
(Narrator) I suppose we do, but as it
happens, we have lots of genes that are
virtually identical in us and fruit flies.
But, happily, our genes seem to do more,
so, let's say that I am a fruit fly. One of
my fruit fly genes may make one and two
slightly different proteins, but now I'm a
human and the very same gene in me
might make one, two, three, four different
proteins, and these four proteins could
combine and build even bigger and more proteins.
Eric - It turns out, that the gene makes a
message, but the message can be spliced up
in different ways. And, so, a gene might
make three proteins or four proteins
and then that protein can get modified.
There could be other proteins that stick
some phosphate group on it or two
phosphates groups. And, in fact, all these
modifications to the proteins could make
them function differently. So, while you
might only have 30,000 genes, you could
have 100,000 distinct proteins, and when
you're done putting all of the different modifications on them, there might be
a million of them. (narrator clears throat)
Scary thought.
Narrator - So, starting with the same raw
ingredients, the fruit fly goes, "mmm, spch, mmm, spch, mmm, spch."
but the human, by somehow or other, being
able to arrange all the parts in many
different ways, can produce melodies, perhaps?
Eric - Yes, although we're not that good
at hearing the melodies yet. One of the
exciting things about reading the genome sequence now, is we're getting a glimpse
at that complexity of the parts and how
it's a symphony, rather than a simple tune
but it's not that easy to just read that sheet
music there and hear the symphony that's
coming out of it.
(Narrator) Okay, so it's not just the number of genes, it's all the different
proteins they can make and the ways those proteins interact, and to find out all of
those interactions and how they affect
health and disease, that's gonna keep
scientists very busy for the next few
decades. But, of course, before the
research can begin in earnest, they first
have to complete the parts list of all the
genes. And by the spring of 2000, both
sides, the public labs and Celera, they
were in hyper-drive. Each camp madly
trying to be first to reach the finish line and get
all 3 billion letters.
(Gene Myers) The pace of things, and the
magnitude of things was really incredible.
I mean, I would remember coming in and
just having this gripping feeling in my
gut, just an intense, "Oh my God, am up to this?"
Robert Cook-Degan - You know whoever has
this reference sequence to the human
genome out there in the world first...
they're going to be famous. They're gonna
be on the front page of The New York Times,
and a lot more than that, for a long time.
And they're gonna be, ya know, celebrities.
And, ya know, when that's going on, it's
not unreasonable that people are gonna
reach for that star and try to get there
before the other person.
(Tony White) I thought that the really intense
Tony - competition of this world was among business, where there is a profit
motive. I now find that we are pikers in the business world, compared to the
academic competition that exists out there.
And I'm beginning to understand why, because their currency is publication.
Their currency is attribution. And their
next funding comes from their last victory.
(Robert) I think we're all better off for the fact that there is this competition.
What you want is a system that gets
people riled up and try to do something
faster, better, and cheaper than the next guy.
(New Speaker, Male) The environment at
Celera was extremely intense and it reminded me of finals week at Cal. Tech.
Man - And there's a tradition at Cal. Tech
that on the very first day of finals week,
the Ride of The Valkyries is played at full blast.
And, so, I thought well, since every
week feels like it's finals week here, why
don't I play the ride and see what happens?
So, we got a whole bunch of viking hats,
and we end up buying Nerf bows, because
we're Nordic Valkyrians. So, the next week
we're shooting each other, and we go,
"Ya know, there's something not right about this." So, we decided the next week
that we would start doing raiding parties and raid some of the other teams.
Unannounced to us, they had been preparing themselves.
Man - Hey, you guys go to the back-stairs.
(Man) - They had little beanie caps, and
their own Nerf weapons and the war started.
(shooting sounds) (Ride of the Valkyries music playing)
(shooting sounds)
(laughing)
(shooting)
(Man) It's just a release. It's a way of
dealing with the pressure, I think.
(laughing) (shooting)
(Man) We all ran like crazy for 5 or 10
minutes, and got a little physical exercise.
And, had a few laughs and then we're
ready to really go after it. (laughing)
(Narrator) The Wagner seems to be working.
Output at Celera continues at a relentless
pace. Venter insists that the urgency
stems not only from a desire to beat
the government project, but the firm
belief that what's coming out of these
machines, all the C's, T's, G's, and A's,
will have a profound impact on all our lives.
(Venter) It's a new beginning in science.
And, until we get all that data, that
can't really take place. Venter - I mean anyone who
has cancer, anybody who has a family
member with a serious disease, this data
and information offers some tremendous
hope that things could change in the future.
Eric Lander - In the past, if you wanted to explain Diabetes, you always had to
scratch your head and say, "Well, it might be something else that we've never seen
before." But knowing that you have the whole parts list, radically changes
biomedical research. Because you can't wave hand and say it might be something
else. There is no "something else".
(Man) 1, 2, 3, 4, 5 C's in a row.
(Narrator) In the past, Narrator - Finding genes that cause
disease was a painstakingly slow process,
but, with the completion of a list, it
should be much easier to make a direct
connection from disease to gene. But how?
Well, let's say I'm looking for a gene
that causes something, we'll make it
Male Pattern Baldness, how would I go
about that. Well, I'd want to get a bunch
of bald guys. So, here are three bald guys
and take their blood and look at their
DNA. Now, I'll take three guys with lots
of hair, and here's their DNA. And, what
if the bald guys all share a particular
spelling right here in this spot, which we
will call, "The Bald Spot", and at the
same spot, you notice the hairy guys have
a different spelling. So, is this the gene
that causes baldness? Maybe, but probably
not. This could be a coincidence. So, how
do I improve my chances of finding the
specific spelling difference that relates
to baldness? It would help if I knew that
the bald guys, and the hairy guys had
really similar DNA, except for the genes
I suspect may make them bald or hairy.
Where do I find guys who are very very
similar with a few exceptions? A family
right? If they were brothers, and fathers,
and sons, and cousins, for instance, who
share lots of genes...
(Narrator) So, let's say these three guys are brothers. Astonishing similarities,
really, in the face, but notice that one of them is hairy and two are bald.
Whatever is making this one different,
should stand out when you compare their
genes. And same for these guys. There's
a difference clearly in the photos, but
that difference may turn up in the genes.
Narrator - You can do the same thing for any disease that you'd like. So, if I
could comb through the DNA of lots of people who are related, and I find some
of them are sick and some of them are healthy, I might have a much better
chance of figuring out which genes are involved. But where do I do this?
(Narrator) Well, one place is a little
island nation in the North Atlantic,
Iceland. In many ways, Iceland is the
perfect place to look for genes that
cause diseases. It's got a tiny population
only about 280,000 people, and virtually
all of them are descended from the
original settlers: Vikings who came here
over 1,000 years ago.
(music playing)
(Kari) If you drive around this country,
you will have great difficulties finding
any evidence of a dynamic culture that
was here for all of these 1,100 years.
There are no great buildings, there are
no monuments.
(Narrator) But, one thing Iceland does
have is a fantastic written history,
including almost everybody's family tree.
And now, it's all in a giant database.
Just punch in a social security number and
there they are, all of your ancestors,
right back to the original Viking.
Thordur - So, what we have here is my
ancestor tree. I'm here at the bottom,
this is my father and mother. My grandparents,
great-grandparents, and so on. We
can find an individual that was one of
the original settlers of Iceland. Here we
have, "Ketill Bjarnarson" called,
"Ketill "flatnefur", meaning he had a
flat nose. So, he may have broken it in
a fight or something. And we estimate
that he was born around the year 805.
(music playing)
(Narrator) Kari Stephanson is a Harvard
trained scientist who saw the potentional
gold mine that might be hidden in
Iceland's genetic history. He set up a
company called, "Decode Genetics" to
combine age-old family trees with
state-of-the-art DNA analysis and computer
technology, and systematically hunt down
the genes that cause disease.
Kari - Our idea was to try to bring
together as much data on healthcare
as possible. As much data on genetics
as possible, and the genealogy, and simply
use the information tools to help us to
discover new knowledge. To discover
new ways to diagnose, treat, prevent diseases.
(Narrator) One of Decode's first projects
was to look for the genes that might cause Osteoarthritis.
Ryn Hydr Magnus Dotre had the
debilitating disease most of her life.
Ryn - The first symptoms appeared when I
was 12, and by the age of 14 my knees
hurt very badly. No one really paid any
attention, that's just the way it was.
But, by the age of 39, I'd had enough, so
I went to a Doctor.
(Narrator) Mrs. Magnus was never alone in
her suffering, she is one of 17 children.
11 of them were so stricken with arthritis
that they had to have their hips replaced.
This was exactly the kind of family that
Decode was looking for. They got
Mrs. Magnus and other members of her
family to donate blood samples for DNA
analysis. And to find more of her
relatives, people she'd never met,
Decode just entered her social security
number into their giant database and there
they were. But which of these people have
Arthritis? To find out, Stephanson asked
the government of Iceland to give his
company exclusive access to the entire
country's medical records. In exchange,
Decode would pay a million dollars a year
plus a share of any profits. That way,
Decode could link everything in their
computers: DNA, health records, and
family trees.
Stephanson - This idea was probably more
debated than any other issue in the
history of the republic. On the eve of
that parliamentary vote, on the bill,
there was an opinion poll taken that
showed that 75% of those that took a
stand on the issue, supported the
passage of the bill, 25% were against it.
(Narrator) Among that 25% against were
most of Iceland's doctors.
(Tomas Zoega) I first thought that there
was something fundamentally wrong
in all of this. They do know everything
about you. Not only about your medical
history, about your medical past, but now
have your gene, the DNA. They know about
your future, about something about your
children, and something about your elders.
Bjorn Gundmarsson - We find ourselves
paralyzed, because there is really nothing
we can do. Because the one who takes the
responsibility is the management of the
Health Center. If they give away this
information from the medical records, they
get money. And everybody needs money.
Healthcare really needs money.
Narrator - So, what's really the problem
here? Well, let's take a hypothetical example, I'm gonna make all this up. Let's
pretend these are medical records of an average person, all we'll suppose that
right here I see a HIV test, and then over here is medication for anxiety after what
appears to be a messy divorce, and over
here a parent who died of Alzheimer's.
Now, this is all stuff that could happen
to anybody, but do you want it all in
a central computer bank, and do you
want it linked in the same computer
to all of your relatives? And to your own
personal DNA file? And should anybody have
to go on a fishing expedition through
your medical history, and your DNA?
(Narrator) Well, it may frightening, but
it also might work. Decode claims it's
discovered several genes that may
contribute to Osteoarthritis. So, this
approach, combining family trees, medical
records, and DNA could lead to better
drugs, or to cures for a whole range of
diseases.
Stephanson - To have all of the data in
one place so you can use the modern
information equipment, to juxtapose the
pieces of data and hope that the pieces
fit. It's an absolutely fascinating
possibility.
(printing sounds)
(Narrator) Stephanson says no one's forced
to do this, and there are elaborate privacy
protections in place. No names are used,
social security numbers are encoded. He
also argues that the DNA part of the
database is voluntary.
Stephanson - The healthcare database only contains healthcare information.
We can cross reference it with DNA
information, but only from those
individuals who have been willing to give
us blood, allowing us to isolate DNA,
genotype it and cross referencing it with
the database. Only from those who have
deliberately taken that risk. It's not
imposed on anyone, and no one who is
scared of it, ya know who is really afraid
of it, should come and give us blood.
(Narrator) DNA databases are popping
up all over the world, including the US.
They all have rules for protecting privacy
but they still make ethicists nervous.
(George Annas) I like to use the analogy of the DNA molecule to a "future diary".
There's a lot of information in the DNA
molecule. The reason I call it a "future diary",
is because I think it's that private.
I don't think anybody should be able to
open up your future diary, except you.
(Narrator) One rather bleak vision of
where all of this could lead it presented
in the Hollywood film, "GATTACA".
This is a world where everybody's DNA,
everybody's future diary, is an open
book. Everyone who can afford to has
their children made to spec. But what
happens to the poor slob who's conceived
the old fashion way?
(Boy from GATTACA film) I'll never
understand what possessed my mother to her faith in God's hands rather than
those of her local geneticists. (baby crying)
Ten fingers, ten toes; that's all that
used to matter. Not now... now, only
seconds old, the exact time and cause of (suction noise)
my death was already known.
(baby crying)
Nurse - Neurological condition: 60%
probability. ADD: 89% probability.
Heart disorder....: 99% probability.
Life expectancy: 30.2 years. Father - 30 years...
(Narrator) 30.2 years. The nurse seems to
know precisely what is going to happen to
this baby, which is ridiculous, right?
Never happen. Or... is it possible that
one day we will be able to look, with
disturbing clarity, into our future?
10, 20, even 70 years ahead...
George - That is one possible future,
where this becomes so routine that, at
birth, everyone gets a profile that goes
right to their medical record, one copy
goes to the FBI, so we have an identification
system for all possible crimes in the US.
One copy goes to your grade school,
to the high school, to the college, to the
employer, the military. Like a horrific
future, although, I have to say there are
many in the Biotech industry and the
medical professions that think that's
a terrific future.
(Narrator) In fact, a lot of the technology
already exists now, today.
These guys in the funny suits are making
"gene chips". The little needles are
dropping tiny, nearly invisible, bits of
DNA onto glass slides. And where do the
DNA come from? From babies. Thousands
of them. Each chip can support 80,000 DNA tests.
Mark Schena - So, a single chip, in
principle, will allow you to test, say,
1,000 babies for 80 different human
diseases. So, within a few minutes, you
can have a readout for thousands, or even
tens-of-thousands of babies in a single experiment.
(Narrator) Already, babies are routinely
tested for a handful of diseases, but with
gene chips, everybody could be tested for
hundreds of conditions.
Mark - Knowing is great. Knowing early is
even better. And that's really what the technology allows us to do.
(Narrator) Well, taking a test and knowing
is great for the baby, anybody really,
as long as there's something you can do
about it.
Narrator - But think about this, because
sometimes there may be a test, but it
might take 20 years, or 50 years, 50 years
to find a cure. So, you could take the
tests, and you could learn that there is
a disease coming your way, but you can't
do a thing about it. Do you still wanna
know? Or, you could take the test, but
the test won't say that you're going to
get the disease. It will simply say that
you may get a disease. And, as you know,
there is a big difference between
"you will" and "you may".
(women talking in distance)
(Narrator) Lisa Capos and Lori Segal are
sisters who shared the wrenching
experience of cancer in the family. Way
back, there was three sisters in 1979.
The youngest of the three, Melanie, was
diagnosed with ovarian cancer.
(Lisa) When my sister was diagnosed, my
response was disbelief. She was
Lisa - 30 years old, and I'd never known
anybody of that age to have ovarian cancer.
(Narrator) Melanie fought her cancer
for four years, but died in 1983.
It seemed an isolated piece of bad luck,
but then, just about a year later, Lisa
discovered that she had breast cancer.
She was only 34, but the cancer hadn't
spread, so the long-term outlook seemed
optimistic.
Lisa - I actually had a radiation
therapist, who was, tops in the field.
Wrote many books on breast cancer, and
was very optimistic. And what I remember
him saying was that he and I would grow
old together.
(Narrator) And Lisa was fine for 12 years,
and then she found another lump in the
same breast.
Lisa - It was the worst fear come true.
The first time I could hold onto hope,
the second time nobody was talking
with me about living to be old.
(Narrator) When Lisa discovered her
second cancer in 1996, scientists were
just beginning to work out the link
between breast and ovarian cancers
that run in families.
Mary Claire King was one of the scientists
who discovered the changes, or mutations
in two specific genes make a woman's
risk of breast and ovarian cancer much
higher. The genes are called, "BRCA-1" and
"BRCA-2"
Mary - BRCA-1 and BRCA-2 are perfectly
healthy, normal genes that all of us have.
But in a few families, mutations in these
genes are inherited.
(Narrator) - So, in a normal gene, we're
gonna spell it out for you here, letter by
letter, this is the normal sequence
ending, "GTAGCAGT". Now, we're gonna make
a copy. Now, we're gonna lose two of the
letters, just two, and then see, watch
them shift over. You see that? This new
configuration is a mutation which can
often cause breast cancer.
Mary - In the United States and Western
Europe, and Canada, the risk of developing
breast cancer for women in the population
as a whole, is about 10% over the course
of her lifetime. With, of course, most of
that risk occurring later in her life.
For a woman with a mutation in BRCA-1 or
BRCA-2, the lifetime risk of breast cancer
is about 80%. It's very high.
(Narrator) Right around the time of Lisa's
second bout of breast cancer, a test for
BRCA mutations became available. Lisa and
her sister, Lori, decided to be tested.
(Lori) I do remember the day that I went
to find out the results.
Lori - Panic, terror. I mean, what was I
gonna find out? Talking about the blood
surging through your temples, I mean
I just remember sheer terror.
(Narrator) Turns out, Lori was fine, but
Lisa discovered that she does carry a
BRCA mutation. It is not easy waking
up every morning, wondering if today's
the day you may get sick.
(Doctor) Any questions about the results
from the biopsy from April?
Lisa - No questions about the results,
again it feels like often my life is
dodging bullets...
(Narrator) With the second cancer, Lisa
had her right breast completely removed.
And then another operation to take out her
ovaries.
(Nurse) Just make a tight fist until I'm in.
(Narrator) She also has a high risk of cancer in her left breast. BRCA mutations
are relatively rare, and only cause maybe
only 5 or 10% of all breast cancer.
But knowing that there's a BRCA mutation
in the family affects everybody.
(Man) The gene doesn't go away. The time
passed since the last cancer doesn't buy
you the safety.
Man - And, the consequences run through
the family. And, I suppose, that, for my
daughter, who yet has not shown any
significant impact of this. The knowledge
that there's a genetic component that she
can't deny. Will, I'm sure, color her life
in serious ways.
(Narrator) Lisa's son, Justin, is 21. Her
daughter, Alana is 18. There is a 50/50
chance that each of them has inherited
the BRCA mutation from Lisa. The only way
to know, would be to take a test.
And when should they do that? When is the
right time?
Alana - I actually never really thought about it until biology this year, when my
teacher posed a hypothetical, supposedly, question to people saying, "What would
you do? Can you imagine what you would do if you were faced with a situation
where you knew that you might have this disease that would be deadly, or cause
you to be sick? And you could do a test
to find out whether or not you had it."
And I was sitting there in class saying,
"Maybe it's not so hypothetical."
(Narrator) And then in her senior year of highschool, Alana felt a lump in her own
breast.
(Alana) I did have the, "Oh, it can't be happening to me. Not yet." kind of thing.
I mean, I have the reservation in the
back of my mind Alana - that eventually it may very well
happen to me. And, if it does, I'll fight
it then. I'll deal with it then, but I
don't expect, or I definitely didn't
expect for this to be happening to me
when I was 17 years old.
(Narrator) Alana's lump was not cancer.
And for now, she doesn't want the test.
Because, if she knew that she had the bad
gene, she'd only have two options:
The choice of removing her breasts and
ovaries to try to reduce her risk. Or just
to be closely monitored, and wait.
Lisa - She's followed every year. Seems
a little young to, ya know, have her have
to face that. On the other hand, it also
feels like the belt-and-suspenders
technique, and we just have to do
everything we can do.
(Narrator) In the next 20 years, this
family's predicament will become more and more common as more and more
genes are linked to more and more diseases and more tests become available. But we
will all have to ask, "Do we want to know?"
And, when we know, can we live with an
answer that says, "Maybe... but maybe not?"
(Lisa) Driving home from work today, I was
tuned into public radio. And there was a
professor of astronomy talking about a
brand new telescope to look into the
galaxies. And they're calling it the
equivalent of The Human Genome Project.
And I was thinking, "Hmm, not quite the
equivalent of The Human Genome Project."
because it's without some of the ethical,
moral angst, real-people issues, where,
it's a bit of a roller-coaster ride
between, ya know, this is gonna hold
answers, and hope, and treatments,
and interventions, and cure versus - it's
not clear what this all means.
(Narrator) And if things aren't clear now,
what about the future when we may not
only cure disease but do so much more.
(Doctor) Your extracted eggs are, Marie,
have been fertilized with Antonio's sperm.
You have specified Hazel eyes, dark hair,
and fair skin. All that remains is to
select the most compatible candidate.
I've taken the liberty of eradicating any
potentially prejudicial condition. Premature baldness, myopia, alcoholism,
obesity, and so... Woman - We didn't want... I mean...
diseases, yes, but um.. Man - Right, we were just wondering
if, if it's good to just leave a few
things to chance. Doctor - We want to give your child the
best possible start.
Keep in mind, this child is still you.
Simply the best of you. You could
conceive naturally a thousand times and
never get such a result.
(Francis) GATTACA really raised some
interesting points. The technology that's
being described there is, in fact, right
in front of us or almost in front of us.
Narrator - That seems to me almost
extremely likely to happen. Cause, what
parent wouldn't want.. ya know, to
introduce a child that wouldn't have,
at least, be where all the other kids
could be?
Francis - That's why this scenario is chilling. It portrayed a society where
genetic determinism had basically run
wild. I think society, in general, has
smiled upon the use of genetics for
preventing terrible diseases. But, when
you begin to blur that boundary of making
your kids genetically different, in a way
that enhances their performance in some
way, that starts to make most of us uneasy.
(Narrator) What if we lived in the world
of Star Trek Voyager? Talk about uneasy.
Actress - Computer, access Belana Toras'
medical file.
(Narrator) Lieutenant Toras is 50% human
and 50% Klingon. Actress - Project a holographic image of
the baby. (Narrator) She's also 100% pregnant.
Actress - Now extrapolate what the child's
facial features will look like at 12 years old.
(Narrator) Like any caring parent, she
doesn't want her child to be teased. For
having a forehead that looks like... well,
like a tire tread. Actress - Display the fetus genome.
Delete the following gene sequences. (Narrator) But here's the twist...
She can do something about it.
Actress - Extrapolate what the child
would look like with those genetic changes.
(Narrator) Hmm, she threw in some blonde (music playing)
hair, too.
And is this limit? Or, could we go even
further? Actress - Save changes.
Narrator - If you can eventually isolate
all of these things, can you then build a
creature that has never existed before?
For example, I would like the eyesight of
a hawk. And I'd like the hearing of a dog.
Otherwise, I'm quite content exactly how
I am. So, could I pluck the eyesight and
the hearing and patch it in?
Eric - Well, we don't know. We really
don't know how that engineering occurs
and how we can improve on it. It'd be
very much like getting a pile of parts to
a Boeing 777, and a whole pile of parts
to an Airbus, and saying, "Well, I'm gonna
mix and match some of these, so it'll
have some of the properties... I'll make it a little fatter, but I also wanna make
it a little shorter." By the time you were done, you'd think you'd made lots of
clever improvements, but the thing wouldn't get off the ground. It's a very
complex machine, and going in with a
monkey wrench to change a piece, odds
are, most changes we would make today,
almost ALL changes we'd make today would break the machine.
(Narrator) We may not be able to genetically modify humans or klingons,
yet. But we do do it to plants and animals
everyday. Look at this stuff, tobacco
plants with a gene from a firefly. And
they use that same insect gene to create
glowing mice.
Narrator - So, it's theoretically possible
that we could create humans with other
advantages that borrowed from other
creatures? Eric - That's right, but the humility of
science right now is to appreciate how little we know about how you could
even begin to go about that. That is the
difference between 20th century and
21st century biology, is, it's now our job
in this century to figure out how the
parts fit together. (music playing)
(Narrator) And just as the 20th century
was winding down, the race to finish the
genome was full throttle. The competitive
juices were flowing.
Venter - I am competitive, but, when the
social order doesn't allow you to make
progress, and it doesn't for most people,
I said, "To hell with the social order,
I'll find a new way to do it."
(Tony White) It changed the paradigm on
people, and people don't like that.
Tony - It was very offensive to these
people. "How dare they?" Ya know,
rain on our parade, this is our turf.
Eric - This was a challenge to the whole idea of public generation of data. That's
what offended people, was that we really
felt deeply that these were data that had
to be available for everybody. And there
was an attempt to claim the public
imagination for the proposition that
these data were better done in some
private fashion and owned.
Tony - You wanna say, "Well, wait a minute. Ya know, if you could do it in
two years, why weren't ya doing it in two years? Why do we have to come
along to turn a 15 year project into a two year project?"
Eric - I must say that The Human Genome Project had a tremendous amount of
internal competition, even amongst the academic groups. There's competition
amongst academic scientists, to be sure.
And more than anything, there's
competition against disease. There's a
strong sense that what we're trying
to find out is the most important
information that you could possibly get.
Tony - I don't know, I mean, I hope that this will all go away.
(Narrator) In June of 2000, it kind of did
go away. (orchestral music playing)
The contentious race to finish the genome
came to an end. (Announcer) Ladies and gentlemen, the
President of the United States.
(Narrator) And the winner was...
Well, you probably heard, they decided
to call it a tie.
(Francis) I think both Craig and I were
really tired of the way in which the
representations had played out and wanted
to see that sort of put behind us. It was
probably not good for Celera, as a
business to have this image of being
sort of always in contention with the
public project. It certainly wasn't good
for the public project to be seen as
battling with the private sector enterprise.
(Narrator) President Clinton, himself,
got the public guys and the Celera guys
to play nice, shake hands, and share
credit for sequencing the genome. (clapping)
President Clinton - Nearly two centuries
ago, in this room, on this floor, Thomas
Jefferson and a trusted aid spread out a
magnificent map. The aid was Merryweather
Louis and the map was the product of his
courageous expedition across the American
frontier, all the way to the Pacific.
Today, the world is joining us here in the
East Room, to behold a map of even greater
significance. We are here to celebrate the
completion of the first survey of the
entire human genome. Without a doubt,
this is the most important, most
wondrous map ever produced by humankind.
(Narrator) And what does this map the
President is talking about, what does it
look like?
Narrator - When we look across the
landscape of our DNA for the 30,000 genes
that make up a human-being, what do we
see?
Eric - The genome is very lumpy. Narrator - Very lumpy?
Eric - Very lumpy, very uneven. You might
think if we have 30,000 genes they're
distributed kind of uniformly across the
chromosomes. Not so.
(music playing)
(Eric) They're distributed like people are
distributed in America. They're all
bunched up in some places, and then you
have vast plains that don't have a lot of
people in them. (car horn honking)
It's like that with the genes.
(music playing)
(Eric) There are really gene-dense regions
that might have 15 times the density of
genes. Sort of a New York City over here.
(music playing)
(Eric) And there are other regions that
might go for two-million letters, and
there's not a gene to be found in there.
Eric - The remarkable thing about our
genome, is how little "gene" there is
in it. We have three billion letters of
DNA, but only 1 to 1.5% of it is gene.
Narrator - 1.5%?
Eric - The rest of it, 99% of it, is stuff.
Narrator - Stuff? This is the technical term?
Eric - A technical term. More than half
of your total DNA is not really yours. It
consists of selfish DNA elements that
somehow got into our genomes about
a billion-and-a-half years ago, and have
been hopping around making copies of
themselves. To those selfish DNA elements,
we're merely a host for them. Narrator - Wait a second...
Eric - They view the human being just as a
vehicle for transmitting themselves. Narrator - Wait, wait, wait...
We have, in each and every one of our cells that carry DNA, we have these
little... they're not beings, they're just
hitchhikers... Eric - Yeah.
Hitchhiking hunks of DNA.
Narrator - And they've been in us for how long?
Eric - About a billion or a half years or so.
Narrator - And all they've done, as far as you can say, is stay there and multiply?
Eric - Well, they move around.
Narrator - And what is that? What do
you call that? I mean, it's not an animal,
it's not a vegetable. It's just...
Eric - It's a gene that knows how to look
out for itself and nothing else.
Narrator - And it's just riding around in us?
The majority of our genome is this stuff,
not us. Narrator - Wow.
(music playing)
(Narrator) It is a little humbling to
think that we, the paragon of animals,
the architects of great civilizations,
are used as taxi cabs by a bunch of
freeloading parasites who could care
less about us, but, that's the mystery of
it all. (lightning)
(music playing)
(Eric) - You come away from reading the
genome, recognizing that we are so
similar to every other living thing on
this planet.
(music playing)
(birds chirping)
(Eric) And every innovation in us... we
didn't really invent it. These were all
things inherited from our ancestors.
(music playing)
(Eric) This gives you a tremendous
respect for life. It gives you a respect
for the complexity of life, the innovation
of life. And the tremendous connectivity
amongst all life on the planet.
(music playing)
(Narrator) We are, in a very real sense,
ordinary creatures. Our parts are
interchangeable with all the other
animals, and even the plants around us.
And yet, we know that there's something
about us that is truly extraordinary.
What it is, we don't know, but what it
does is, it let's us ask questions and
investigate, and contemplate the
messages buried in a molecule shaped
like a twisted staircase. That's what we,
and maybe we alone, can do. We can wonder.
(music playing)
(Narrator) This program raises many
difficult questions, and we do want to
know what you think. So, please logon
to Nova's website and take our survey.
Also, you can see how scientists pinpoint
a gene, find out how sequencing works,
and more at PBS.org or AmericaOnline,
keyword: PBS.
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(Announcer) To order this show or any
other Nova program for $19.95 plus
shipping and handling, call WGBH Boston
Video at 1-800-255-9424.
By inserting just one gene, our food can
grow bigger, resist disease, and feed the world.
(Man) This is a mass genetic
experiment that's going on in our diet.
(Announcer) Harvest of Fear, a NOVA
frontline special report.
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