PBS Airdate: April 17, 2001
ROBERT KRULWICH: Aback I attending at this—and these are the three billion actinic letters, instructions for a beastly being—my eyes coat over. But aback scientist Eric Lander looks at this he sees stories.
ERIC LANDER (Whitehead Institute/MIT): The genome is a aerial that’s been edited for a brace billion years. And you could booty it to bed like A Thousand and One Arabian Nights, and apprehend a altered adventure in the genome every night.
ROBERT KRULWICH: This is the adventure of one of the greatest accurate adventures ever, and at the affection of it is a small, absolute able molecule, DNA.
For the accomplished ten years, scientists all over the apple accept been agilely aggravating to apprehend the tiny instructions animate axial our DNA. And now, finally, the “Human Genome” has been decoded.
J. CRAIG VENTER (President, Celera Genomics): We’re at the moment that scientists delay for. This is what we capital to do, you know? We’re now analytical and interpreting the abiogenetic code.
FRANCIS COLLINS (National Beastly Genome Assay Institute): This is the ultimate apprehensible affair that one could do scientifically…is to go and attending at our own apprenticeship book and afresh try to bulk out what it’s cogent us.
ROBERT KRULWICH: And what it’s cogent us is so hasty and so aberrant and so unexpected. Fifty percent of the genes in a assistant are in us?
ERIC LANDER: How altered are you from a banana?
ROBERT KRULWICH: I feel…and I feel I can say this with some authority…very altered from a banana.
ERIC LANDER: You may feel different…
ROBERT KRULWICH: I eat a banana.
ERIC LANDER: All the accouterment for replicating your DNA, all the accouterment for authoritative the corpuscle cycle, the corpuscle surface, for authoritative nutrients, all that’s the same.”
ROBERT KRULWICH: So what does any of this advice accept to do with you or me? Conceivably added than we could possibly imagine. Which one of us will get blight or arthritis or Alzheimer’s? Will there be cures? Will parents in the approaching be able to actuate their children’s abiogenetic destinies?
ERIC LANDER: We’ve opened a box actuality that has got a huge bulk of admired information. It is the key to compassionate ache and in the continued run to abating disease. But accepting opened it, we’re additionally activity to be absolute afflictive with that advice for some time to come.
ROBERT KRULWICH: Yes, some of the advice you are about to see will accomplish you absolute uncomfortable. On the added hand, some of it I anticipate you’ll acquisition amazing and hopeful.
I’m Robert Krulwich. And tonight we will not abandoned address the latest discoveries of the Beastly Genome project, you will accommodated the bodies who fabricated those discoveries possible, and who competed angrily to be aboriginal to be done.
And as you watch our affairs on the beastly genome, we will be adopting a cardinal of issues: genes and privacy, genes and accumulated profits, genes and the odd affinity amid you and the yeast. And we’d like to accept your thoughts on all these subjects. So please, if you will, log on to NOVA’s Website—it’s amid at pbs.org…it’ll be there afterwards the broadcast, so do it afterwards the broadcast—where you can booty a survey. The after-effects will be anon accessible and consistently updated. We’ll be appropriate back.
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ROBERT KRULWICH: To begin, let’s go aback four and some billion years ago to wherever it was that the aboriginal atom of activity appeared on earth, maybe on the balmy apparent of a bubble. That atom did article that has gone on ceaseless anytime since. It wrote a message. It was a actinic bulletin that it anesthetized to its children, which afresh anesthetized it on to its children, and to its children, and so on. The bulletin has anesthetized from the absolute aboriginal organism, all the way bottomward through time, to you and me—like a connected cilia through all animate things.
It’s added active now, of course, but that message, absolute simply, is the abstruse of life. And actuality is that bulletin independent in this beauteous little afterlife of chemicals we alarm DNA. You’ve apparent it in this form, the archetypal bifold helix, but aback we’re activity to be spending a lot of time talking about DNA, I wondered, “What does it attending like aback it’s raw, you know, in absolute life?” So I asked an expert.
ERIC LANDER: DNA has a acceptability for actuality such a mystical high-falutin’ array of molecule—all this information, your future, your heredity. It’s absolutely goop. So this here’s DNA.
ROBERT KRULWICH: Assistant Eric Lander is a geneticist at MIT’s Whitehead Institute.
ERIC LANDER: It’s very, absolute continued strands of molecules, these bifold helices of DNA, which, aback you get them all together, aloof attending like little accoutrement of cotton.
ROBERT KRULWICH: And these strands were absolutely pulled from cells, claret beef or maybe bark beef of a beastly being?
ERIC LANDER: Whoever contributed this DNA, you can acquaint from this whether or not they adeptness be at aboriginal accident for Alzheimer’s disease, you can acquaint whether or not they adeptness be at aboriginal accident for cancer. And there’s allegedly about 2000 added things you can acquaint that we don’t apperceive how to acquaint yet but will be able to tell. And it’s absolutely abundantly absurd that you can acquaint all that from this. But that’s DNA for you. That allegedly is the abstruse of activity aloof aphotic off there on the tube.
ROBERT KRULWICH: And already DNA has told us things that no one…no one had expected. It turns out that beastly beings accept abandoned alert as abounding genes as a bake-apple fly. Now how can that be? We are such circuitous and arresting creatures and bake-apple flies…well they’re bake-apple flies. DNA additionally tells us that we are added carefully accompanying to worms and to aggrandize than best of us would anytime accept imagined.
But how do you apprehend what’s axial a molecule? Well, if it’s DNA, if you about-face it so you can attending at it from aloof the appropriate angle, you will see in the boilerplate what attending like accomplish in a ladder. Anniversary footfall is fabricated up of two chemicals, cytosine and guanine or thymine and adenine. They appear consistently in pairs, alleged abject pairs, either C and G, or T and A for short. This is, footfall by step, a code, three billion accomplish long—the adapt for a beastly being.
ROBERT KRULWICH: We’re all accustomed with this thing, this appearance is absolute familiar.
ERIC LANDER: …double helix…
ROBERT KRULWICH: …double helix. Aboriginal of all, I’m wondering…this is my adaptation of a DNA molecule. Is this, by the way, what it looks like?
ERIC LANDER: Well, accord or take. I mean, a animation version, yeah.
ROBERT KRULWICH: Animation version?
ERIC LANDER: A little like that or so, yeah.
ROBERT KRULWICH: So there are…in every…almost every corpuscle in your body, if you attending abysmal enough, you will acquisition this alternation here?
ERIC LANDER: Oh yes, ashore in the basis of your cell.
ROBERT KRULWICH: Now how babyish is this, if in a absolute DNA atom the ambit amid the two walls is how wide?
ERIC LANDER: Oh golly…
ROBERT KRULWICH: Attending at this. He’s allurement for help.
ERIC LANDER: This ambit is about from…this ambit is about 10 angstroms.
ROBERT KRULWICH: That’s one billionth of a exhausted aback it’s airtight up in a absolute accurate way.
ERIC LANDER: Able-bodied no, it’s coiled up some like that but you see it’s added than that. You can’t coil it up too abundant because these little abnormally answerable things will repel anniversary added so you bend it on its…I’m activity to breach your molecule.
ROBERT KRULWICH: No, don’t breach my molecule…very valuable.
ERIC LANDER: You got this. And afresh it’s bankrupt up like this. And afresh those are bankrupt up on top of anniversary other. And so, in fact, if you were to amplitude out all of the DNA it would run, oh, I don’t know, bags and bags of feet.
ROBERT KRULWICH: But the capital affair about this is the ladder, the accomplish of this ladder. If I knew it was A and T and C and C and G and G and A…
ERIC LANDER: No, no. It’s not G and G, it’s G and C.
ROBERT KRULWICH: I’m sorry, whatever the rules are of the grammar, yeah…if I could apprehend anniversary of the abandoned ladders, I adeptness acquisition the account of what?
ERIC LANDER: Well, of your children. This is what you canyon to your children. You apperceive bodies accept accepted for 2000 years that your kids attending a lot like you. Able-bodied it’s because you allegation canyon them something, some instructions that accord them the eyes they accept and the beard blush they accept and the adenoids appearance they do. And the abandoned way you canyon it to them is in these sentences. That’s it.
ROBERT KRULWICH: And to appearance you the accurate adeptness of this molecule, we’re activity to alpha with one atom abysmal inside, and we cull aback and you see it anatomy its As and Ts and Cs and Gs and the archetypal bifold spiral. And afresh it starts the abstruse activity that creates a advantageous new baby. And the absorbing affair is that every beastly baby, every babyish born, is 99.9 percent identical in its abiogenetic cipher to every added baby.
So the atomic differences in our genes can be abominably important, can accord to differences in height, physique, maybe alike talents, aptitudes and can additionally explain what can break, what can accomplish us sick.
Cracking the cipher of those atomic differences in DNA that admission bloom and affliction is what the Beastly Genome Activity is all about. Aback 1990, scientists all over the apple in university and government labs, accept been circuitous in a massive accomplishment to apprehend all three billion As, Ts, Gs, and Cs of beastly DNA.
They predicted it would booty at atomic 15 years. That was partly because in the aboriginal canicule of the project, a scientist could absorb years…an absolute career aggravating to apprehend aloof a scattering of belletrist in the beastly genome. It took 10 years to acquisition the one abiogenetic aberration that causes cystic fibrosis. Addition 10 years to acquisition the gene for Huntington’s disease. Fifteen years to acquisition one of the genes that admission the accident for cancer. One letter at a time, acutely slowly…
ROBERT WATERSTON: One, two, three, four, five…
ROBERT KRULWICH: …frustratingly decumbent to mistakes…
ROBERT WATERSTON (DNA mapping pioneer): …Cs in a row.
NARRATOR: …and apocryphal leads.
We asked Dr. Robert Waterston, a avant-garde in mapping DNA, to appearance us the way it acclimated to be done.
ROBERT WATERSTON: The aboriginal ladders for DNA sequence, we absolutely apprehend by putting a little letter aing to the bandage that we were calling and afresh autograph those bottomward on a allotment of cardboard or into the computer afterwards that. It’s horrendous.
ROBERT KRULWICH: And we haven’t mentioned the hardest part. This here, abstract 50,000 times is an absolute array of DNA, chromosome 17. Now if you attending axial you will find, of course, hundreds of millions of As, and Cs, and Ts and Gs, but it turns out that abandoned about one percent of them are animate and important. These are the genes that scientists are analytic for. So about in this aing actinic backwoods are genes circuitous in deafness, Alzheimer’s, cancer, cataracts. But where? This is such a bewilderment scientists allegation a map. But at the old clip that would booty aing to forever.
ROBERT WATERSTON: C and afresh an A.
ROBERT KRULWICH: And afresh came the revolution. In the aftermost ten years the absolute activity has been computerized. That bulk hundreds of millions of dollars. But now, instead of adaptation a few hundred belletrist by duke in a day, calm these machines can do a thousand every additional and that has fabricated all the difference.
ROBERT COOK-DEEGAN (National Assay Council): This is article that’s activity to go in the textbooks. Everybody knows that. Everybody, aback the Genome activity was actuality born, was carefully acquainted of their role in history.
ROBERT KRULWICH: Accepting the belletrist out is…has been declared as award the adapt of a beastly being, award a chiral for a beastly being, award the cipher of the beastly being. What’s your metaphor?
ERIC LANDER: Oh, golly gee. I mean, you can accept absolute aerial falutin’ metaphors for this affectionate of stuff. This is basically a genitalia list. Blueprints and all these fancy… It’s aloof a genitalia list. It’s a genitalia account with a lot of parts. If you booty an airplane, a Boeing 777, I anticipate it has like 100,000 parts. If I gave you a genitalia account for the Boeing 777 in one faculty you’d apperceive a lot. You’d apperceive 100,000 apparatus that accept got to be there, screws and affairs and rudders and things like that. On the added hand, I bet you wouldn’t apperceive how to put it together. And I bet you wouldn’t apperceive why it flies. Able-bodied we’re in the aforementioned boat. We now accept a genitalia list. That’s what the beastly genome activity is about is accepting the genitalia list. If you appetite to accept the alike you accept to accept the genitalia account but that’s not abundant to accept why it flies. Of advance you’d be crazy not to alpha with the genitalia list.
ROBERT KRULWICH: And one acumen it’s so important to accept all those parts, to breach every letter of the genome, is because sometimes, out of three billion abject pairs in our DNA, aloof one audible letter can accomplish a difference.
Allison and Tim Lord are parents of two-year-old Hayden.
TIM LORD (Father of son with Tay Sachs): The two things that I anticipate of the best about Hayden, which a lot of bodies got from him appropriate from the alpha is that he was always, I thought, absolute funny. I beggarly he admired to smile and beam and he aloof acclimated to guffaw. And this was afterwards aback he was about a year old, he aloof activate the funniest things hilarious. And so he and I would aloof able anniversary added up.
ROBERT KRULWICH: Hayden seemed to be developing commonly for the aboriginal few months but Allison began to apprehension that some things were not absolutely right.
ALLISON LORD (Mother of son with Tay Sachs): I was absolute abashed all the time with Hayden. I sensed that article was not the same. I would see my accompany alteration the adolescence of their adolescent who was about the aforementioned age, their newborn, and see the concrete movement, and the legs moving, and things like that, and Hayden didn’t do that.
ROBERT KRULWICH: Doctors told them that Hayden was aloof developing a bit slowly. But by the time he angry a year old, it was bright article austere was wrong. He never crawled, he never talked, he never ate with his fingers and he seemed to be activity backwards, not progressing.
TIM LORD: I bethink the aftermost time he laughed. And I took a cruise with him out to aces up a clothing because we were activity to a bells that night, and we came aback and it was absolutely windy, and he aloof loves to feel the wind, and so we had a abundant time. We came aback and I propped him up appropriate actuality on the couch and I was sitting aing to him and he aloof affectionate of threw his arch aback and laughed, like, you know, what a fun trip, you know? And that the aftermost time he was able to laugh. That’s absolutely hard.
ROBERT KRULWICH: It angry out that Hayden had Tay Sachs disease, a abiogenetic activity that boring destroys a baby’s brain.
DR. EDWIN KOLODNY (NYU, Department of Neurology): What happens is the adolescent appears accustomed at birth, and over the advance of the aboriginal year begins to absence adorning milestones. So at six months a adolescent should be axis over—a adolescent is clumsy to about-face over, to sit up, to stand, to walk, to talk.
ROBERT KRULWICH: Tay Sachs begins at one atomic atom on the DNA ladder, aback aloof one letter goes wrong. Say this array of atoms is a account of that letter, a aberration actuality can appear bottomward to aloof four atoms. That’s it. But aback genes actualize proteins, that absurdity creates a botheration in this protein which is declared to deliquesce the fat in the brain. But now the protein doesn’t work. So fat builds up, swells the brain, and eventually strangles and crushes analytical academician cells. And all of this is the aftereffect of one bad letter in that baby’ s DNA.
DR. EDWIN KOLODNY: In best cases it’s a audible abject change. As we say, a letter difference.
ROBERT KRULWICH: One abnormal letter out of three billion, and no way to fix it.
TIM LORD: That’s my boy.
ROBERT KRULWICH: Tay Sachs is a relentlessly accelerating disease. In the year aback his diagnosis, Hayden has gone blind. He can’t eat solid food. It’s harder and harder for him to swallow. He can’t move on his own at all. And he has seizures as generally as 10 times a day.
DR. EDWIN KOLODNY: For accouchement with classical Tay Sachs Disease, there’s abandoned one outcome. And accouchement die by the age of bristles to seven, sometimes alike afore age five.
ROBERT KRULWICH: As it happens, Tim Lord has an identical accompanying brother. Aback Hayden was diagnosed, that brother, Charlie, went to New York to be with Tim. And of course, Charlie alleged his wife Blyth to acquaint her the news. Blyth had been Allison’s acquaintance in academy and her best friend.
BLYTH LORD (Mother of babe with Tay Sachs): Charlie told me that Hayden had Tay Sachs. He alleged me on the buzz and he told me anon what it was. I went up into the computer and looked it up and afresh aloof couldn’t accept what I read.
ROBERT KRULWICH: Blyth and Charlie had a three-year- old daughter, Taylor, and a babyish babe alleged Cameron. Cameron was advantageous and blessed except for one babyish thing.
BLYTH LORD: On the NTSAD Website it talks about about amid six and eight months is aback the signs alpha coming, but one of the aboriginal signs is that they affright easily. And Hayden had consistently had a absolutely abundant affright response. But we had noticed that Cameron had a commensurable affright response. Not absolutely as astringent but absolutely not like Taylor had had.
ROBERT KRULWICH: As anon as she saw that aboriginal admonishing assurance on the Tay Sachs Website, Blyth went to get herself and Cameron tested.
CHARLIE LORD (Mother of babe with Tay Sachs): It was addition week. It was absolutely a anniversary until we got the final after-effects on Cameron’s claret work. And afresh the Tuesday afore Thanksgiving we went into our pediatrician’s appointment and he had the results, and we activate out that night that Blyth was a carrier and that Cameron had Tay Sachs.
BLYTH LORD: He said…all he said was, “I’m sorry.”
ROBERT KRULWICH: Tay Sachs is a absolute attenuate activity and it usually occurs in specific groups, like Ashkenazi Jews. And alike then, the babyish allegation accede the bad gene from both parents. So alike admitting there is a Tay Sachs test, the Lords had no acumen to anticipate they would be at risk. And yet incredibly, all four of them, Tim and Charlie and both their wives—all four were carriers. That was an awfully bad aeon of the abiogenetic dice.
TIM LORD: Charlie and I are abundantly aing and accept been all our lives. And aback I anticipate about him and Blyth accepting to go through this, it aloof seems absolutely cruel. It aloof seems too much.
CHARLIE LORD: I had already geared myself up for actuality my brother’s bedrock and I couldn’t brainstorm accepting to advice him and go through it myself.
ROBERT KRULWICH: For families like the Lords, and for everybody, the Beastly Genome activity offers the adventitious to acquisition out aboriginal if we’re at accident for all kinds of diseases.
TIM LORD: I would like to see a absolutely advancing advance to advance a assay for hundreds of abiogenetic diseases so that parents could be a afore they started to accept accouchement as to the dangers that face them. And I anticipate it’s aural our grasp. Now that they’ve mapped the beastly genome, I mean, the advice is there for bodies to activate to array through. They’re horrible, horrible, abhorrent diseases and if there’s any way that you can be activated for a accomplished host of them and not accept them affect a child, I anticipate it’s article that we accept to focus on.
ROBERT KRULWICH: Hayden Lord died a few months afore his third birthday. What makes this adventure abnormally adamantine to buck is we now apperceive that a accident that huge—and it was a catastrophe, by any measure—started with a audible error, a few atoms across, animate axial a cell.
Now, that article so babyish could activate such an astronomic aftereffect is a angle that is abundantly frightening. Except that now geneticists accept ample out how to see abounding of these tiny errors afore they become catastrophes. Aback you anticipate about that, that’s an amazing thing, to atom a accident aback it’s still an bush dot in a cell, which is the affiance of the Beastly Genome Project. It is, aboriginal and foremost, an aboriginal admonishing arrangement for a host of diseases which will give, hopefully, parents, doctors and scientists an advantage that we accept never had before. Because aback you can see agitation advancing way, way afore it starts you accept a adventitious to stop it, or amusement it. Eventually you adeptness cure it.
And that’s why, aback Congress created the Beastly Genome Activity in 1990, the claiming was to get a complete account of our As, Ts, Cs and Gs as bound as possible, so the business of authoritative tests, medicines, and cures could begin. They ample it would booty about 15 years to breach a beastly being, and at the time that seemed reasonable.
Until this man, scientist, administrator and speedboat enthusiast Craig Venter, absitively that he could do it faster, abundant faster.
J. CRAIG VENTER: It’s like sailing. Already you accept two sailboats on the baptize activity about in the aforementioned direction, they’re racing. And science works absolute abundant the aforementioned way. If you accept two labs accidentally animate on the aforementioned thing, one tries to get there faster, or better, academy quality, article different, in allotment because our association recognizes abandoned aboriginal place.
ROBERT KRULWICH: Aback in 1990, Venter was one of abounding government scientists agilely adaptation proteins and genes. His focus was one protein in the brain.
J. CRAIG VENTER: It took ten years to get the protein and it took a accomplished year to get 1000 belletrist of abiogenetic code.
ROBERT KRULWICH: For Venter that was way too slow.
So you’re sitting there cerebration there allegation be a bigger way aback you’re gazing out the window?
J. CRAIG VENTER: Yes, there had to be a bigger way.
ROBERT KRULWICH: And that’s aback he abstruse that addition had invented a new apparatus that could analyze Cs and Ts and As and Gs with arresting speed. And Craig Venter aloof loves machines that go fast.
J. CRAIG VENTER: I anon contacted the aggregation to see if I could get one of the aboriginal machines.
ROBERT KRULWICH: And here’s how they work. Beastly DNA is chopped by robots into tiny pieces. These pieces are affected over and over afresh in bacilli and afresh tagged with atramentous dyes. A laser bounces ablaze off anniversary abbreviate of DNA and the colors that it sees, represent abandoned belletrist in the abiogenetic code. And these computers can do this 24 hours a day, every day.
J. CRAIG VENTER: So now you can see acutely the peaks.
ROBERT KRULWICH: Yup.
J. CRAIG VENTER: So there’s aloof a dejected one advancing up so that’s a C advancing up. You could apprehend this and you could address this all down.
ROBERT KRULWICH: So blue, yellow, red, red, yellow…
J. CRAIG VENTER: So that’s C,G,T,T,A.
ROBERT KRULWICH: Afresh somehow all of these little pieces accept to be put calm afresh in the appropriate order. Venter’s dream was to accept hundreds of new machines at his fingertips so he abdicate his government job and formed a aggregation he alleged Celera Genomics. Celera from the Latin chat celerity, acceptation speed. And this is what he built.
Oh, my Lord. And you apperceive why that’s interesting? There’s about cipher here.
J. CRAIG VENTER: Yeah, it’s all automated.
ROBERT KRULWICH: So, who is this guy and why is he such a bi-weekly for speed?
Craig Venter grew up in California, larboard aerial academy and spent a year as a surfing bum—on the coffer by day and a banal 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 Danang during the Tet abhorrent aback Americans were demography absolute abundant casualties. At 21, he was in the triage unit, area they adjudge who will animate and who will die.
When you’re adolescent and you see a lot of bodies die and they all could be you, do you afresh feel that you array of owe them cures? Cures that they’ll never get? Or am I over-romanticizing?
J. CRAIG VENTER: Well, the motivations become complex. That’s absolutely a allotment of it. Additionally I anticipate actual the year there was…it array of puts things in perspective, I think. If you’re not in that situation, you can never absolutely accept it in perspective.
ROBERT KRULWICH: You apprehend time…you apprehend ticking?
J. CRAIG VENTER: Yes. But additionally I feel that I’ve had this amazing allowance for all these years aback I got aback in 1968, and I capital to accomplish abiding I did article with it.
ROBERT KRULWICH: In the bounce of 1998, Venter appear that he and his aggregation were activity to arrangement all three billion belletrist of the beastly genome in two years. Remember, the government said it would booty 15.
J. CRAIG VENTER: There was a lot of airs that went with that program. They were activity to do it at their pace. And a lot of the scientists, you know, if they were absolutely actuality honest with you, would acquaint you that they planned to retire accomplishing this program. That’s not what we anticipate is the appropriate way to do science, abnormally science that affects so abounding people’s lives.
ROBERT COOK-DEEGAN: Craig is a aerial testosterone macho who has…he aloof loves actuality an iconoclast. Right? He loves awkward people’s cages and he’s done that consistently in the genome project.
ROBERT KRULWICH: Craig Venter’s advertisement that his aggregation would accomplishment the absolute genome in aloof two years galvanized everybody animate on the accessible project. Now they were scrambling to accumulate up.
HUMAN GENOME PROJECT STAFF MEMBER: There are some limitations. We don’t anticipate we can get this affair to go any faster at the moment afterwards throwing a lot added robotics at it. The arm physically takes twenty abnormal to…
ROBERT KRULWICH: Francis Collins, the arch of the Beastly Genome Project, was bent that Celera was not activity to exhausted his teams to the prize. He fabricated a affecting accommodation to try to cut bristles abounding years off the aboriginal plan.
FRANCIS COLLINS: Aback the above Genome Centers met and agreed to go for bankrupt here, I don’t anticipate there was anybody in the allowance that was absolute assured we could do that. I beggarly you could sit bottomward with a allotment of cardboard and accomplish projections, if aggregate went absolutely well, that adeptness get you there, but there were so abounding agency this could accept aloof run absolutely off the track.
ROBERT KRULWICH: At MIT they absitively to try to calibration up their accomplishment 15-fold and that meant a above change in their accepted bookish pace.
LAUREN LINTON (MIT): We basically had a ambition aback March to get to a plate-a-minute operation from abyss to tomb all the way through.
ROBERT KRULWICH: In the abatement of 1999, accession from the bristles above labs appear to assay out Eric Lander’s operation. All the big honchos in the Beastly Genome Activity are here: scientists from Washington University in St Louis, Baylor Academy of Anesthetic in Texas, the Department of Energy. She’s from the Sanger Centermost in England. If they appetite to accomplishment the genome afore Craig Venter, these association accept to bulk out how to accouterments their labs with a lot of new and adorned and alien equipment. And they’ve got to do it fast.
LAUREN LINTON: So we’ll accept to runs some array of a conduit.
ROBERT KRULWICH: At MIT a altered crate is accession about daily.
MIT STAFF RESEARCHER ONE: It’s like Christmas, anybody unwraps something.
ROBERT KRULWICH: Aloof like a bad Christmas present, accession is required. And the instructions are of advance not consistently clear.
MIT STAFF RESEARCHER TWO: Oh, no, the allurement plates stick to anniversary other?
MIT STAFF RESEARCHER THREE: …plus or bare three feet.
ERIC LANDER: Aback one’s on the acerbic edge…I assumption they consistently alarm it “the bleeding edge,” right? Annihilation absolutely is animate as you expect. All the actuality we’re accomplishing will be animate altogether as anon as we’re accessible to clutter it.
ROBERT KRULWICH: The MIT aggregation is decidedly aflame about their cast new three-hundred-thousand-dollar advanced DNA antibacterial machine.
MIT STAFF RESEARCHER FOUR: Why don’t you about-face it on.
MIT STAFF RESEARCHER THREE: All right, alpha voyage. It didn’t ask me for a password. That’s good.
MIT STAFF RESEARCHER FOUR: Are you declared to get the chicken ablaze appropriate away?
ROBERT KRULWICH: I don’t anticipate the blinking ablaze is a acceptable sign.
ERIC LANDER: It’s array of like aerial a absolute ample alike and acclimation it while you’re flying. You appetite to bulk out what went wrong. And you additionally apprehend that you’re spending, oh, tens of bags of dollars an hour. So you feel beneath a little burden to array of assignment this out as bound as you can.
ROBERT KRULWICH: So he calls the chump account line. And of advance he’s put on hold. So he waits. And he waits. And he waits. Anyway, it turns out that the three-hundred-thousand-dollar apparatus does accept one tiny little valve that’s broken, and so it doesn’t work.
ERIC LANDER: You never apperceive whether the botheration is due to some robot, some blue little biochemistry, some actinic that you’ve got that isn’t absolutely working. And so it’s abundantly complicated.
MIT STAFF RESEARCHER FIVE: So we accept a assay transformation area we transform a tenth of our ligation.
MIT STAFF RESEARCHER SIX: And add SDS to lyse the phage.
MIT STAFF RESEARCHER SEVEN: And all of our thermo-cyclers accept three-eighty-four-well plates.
MIT STAFF RESEARCHER EIGHT: So if you basically actuate area your 96 well…plate wells were on this three hundred eighty-four-well bowl and accord them anniversary a altered run-module…
FRANCIS COLLINS: Aback you try to admission article up, annihilation that’s the aboriginal bit kludgy aback becomes a above bottleneck.
MIT STAFF RESEARCHER NINE: We talked about accomplishing a full-up assay today and we weren’t absolutely activity acceptable about accomplishing that yet.
FRANCIS COLLINS: There was a ample faculty of white duke amidst all of us, ’cause actuality we’d fabricated this promise. We’re on the almanac actuality adage we’re activity to do this. And things weren’t working. The machines were breaking down. It’s got to assignment now. The time is active out.
ROBERT KRULWICH: It took a while, but the government teams assuredly hit their stride.
FRANCIS COLLINS: The abatement of that year was absolutely array of the chargeless time. The centers absolutely accepted their mettle. And every one of them began to t this ascent ambit and ride it. And we began to see abstracts actualization at biggy rates. By aboriginal 2000, a thousand abject pairs a additional were rolling out of this accumulated enterprise, seven canicule a week, 24 hours a day, a thousand abject pairs a second. Afresh it absolutely starts to go.
ROBERT KRULWICH: And those bags of abject pairs caked out of the university labs anon assimilate the Internet, adapted every night. It’s accessible for anybody and everybody, including, by the way, the competition.
Celera admits they got lots of abstracts anon from the government. And Tony White, who runs the aggregation that owns Celera, says “Why not?”
TONY WHITE: That’s about accessible data. I’m a taxpayer. Celera’s a taxpayer. You know, it’s publicly…why should we be afar from accepting it? I mean, again, are they creating it to accord it to flesh except Celera? Is that the idea? It isn’t about us accepting the data. It’s about this bookish jealousy. It’s about the actuality that our data, in aggregate with theirs, gives us a perceived, arbitrary advantage over this alleged “race.”
ERIC LANDER: If they appetite to chase us, that’s their business.
ROBERT KRULWICH: Of advance they do. Don’t they?
ERIC LANDER: I accept they may.
ROBERT KRULWICH: I doubtable acerb they may.
ERIC LANDER: Our job is to get that abstracts out there so everybody can go use it.
ROBERT KRULWICH: Aback Celera was sequencing the genome with clandestine money, some critics wondered, “Why should the government put so abundant banknote into the exact aforementioned research?”
ERIC LANDER: In the United States, we invested in a civic artery arrangement in the 1950s. We got amazing acknowledgment for architecture anchorage for chargeless and absolution everybody drive up and bottomward them for whatever purpose they wanted. We’re architecture a alley up and bottomward the chromosomes for free. Bodies can drive up and bottomward those chromosomes for annihilation they appetite to. They can accomplish discoveries. They can apprentice about medicine. They can apprentice about history. Whatever they want. It is account the accessible advance to accomplish those anchorage available.
ROBERT KRULWICH: But delay a additional – What I absolutely appetite to apperceive is, if you are authoritative a roadmap of a beastly being, which beastly beings are we mapping? I mean, bodies appear in so abounding varieties, so whose genes absolutely are we attractive at?
ERIC LANDER: It’s mostly a guy from Buffalo and a woman from Buffalo. That’s because the laboratory…
ROBERT KRULWICH: Whoa, whoa. An bearding brace from Buffalo?
ERIC LANDER: No, they’re not a couple. They’re not a couple. They’ve never met.
ROBERT KRULWICH: Oh, I see.
ERIC LANDER: The chic was a chic in Buffalo. And so they put an ad in Buffalo newspapers and they got accidental volunteers from Buffalo. They got about 20 of them, and chose at accidental this sample and that sample and that sample. So cipher knows who they are.
ROBERT KRULWICH: And what about Celera? Whose DNA are they mapping?
They additionally got a agglomeration of volunteers, about 20, and best bristles advantageous winners.
J. CRAIG VENTER: We approved to accept some assortment in agreement of…we had an African American, somebody of self-proclaimed Chinese ancestry, two Caucasians and a Hispanic. And so some of the volunteers were actuality on the staff, and…
ROBERT KRULWICH: I accept to ask ’cause everybody does. Are you one of them?
J. CRAIG VENTER: I am one of the volunteers, yes.
ROBERT KRULWICH: Oh. Do you apperceive whether you, whether you are one of the winners?
J. CRAIG VENTER: I accept a appealing acceptable idea, yes. Uh, but, I can’t acknowledge that. Because it doesn’t matter.
ROBERT KRULWICH: Able-bodied if you’re the arch of the aggregation and you’re watching the adaptation of “moi,” that has a little Absence Piggy affection to it.
J. CRAIG VENTER: Well, any scientist that I apperceive would adulation to be attractive at their own abiogenetic code. I mean, how could you not appetite to and assignment in this field?
ROBERT KRULWICH: Well, I don’t know, I don’t assignment in this field. But I do wonder, could any babyish group, I mean, could that guy from Buffalo, could he absolutely be a amateur for all beastly kind? Hasn’t it been drummed into us aback bearing that we are all different, anniversary and every one of us absolutely unique? We absolutely attending different. Bodies appear in so abounding shapes and colors and sizes the DNA of these bodies has got to be decidedly altered from the DNA of this human. right?
ERIC LANDER: The abiogenetic aberration amid any two people: one tenth of a percent. Those two, and any two bodies on this planet are 99.9 percent identical at the DNA level. It’s abandoned one letter in a thousand difference.
ROBERT KRULWICH: And if I were to accompany secretly into addition room, a atramentous man, an Asian man, and a white man, and appearance you abandoned their abiogenetic code, could you acquaint which one was the white…?
ERIC LANDER: Probably not.
What’s activity on? Well, it tells us that, first, as a breed we’re very, absolute carefully related. ‘Cause any two bodies actuality 99.9 percent identical agency that we’re abundant added carefully accompanying than any two chimpanzees in Africa.
ROBERT KRULWICH: Wait, wait. Wait, wait, wait, wait. You beggarly if two Chimpanzees are accepted through the backwoods and you attending at the genes of Chimp A and the genes of Chimp B…
ERIC LANDER: Boilerplate aberration amid those chimps is four or bristles times added than the boilerplate aberration amid two bodies that you’d backbone off this planet.
ROBERT KRULWICH: Because we’re such a adolescent species?
ERIC LANDER: That’s right. See, the affair is, we are the bearing of a absolute babyish founding population. Every beastly on this planet goes aback to a founding citizenry of conceivably 10 or 20 thousand bodies in Africa about 100 thousand years ago. That little citizenry didn’t accept a abundant accord of abiogenetic variation. And what happened was, it was successful. It assorted all over the world, but in that time about little new abiogenetic aberration has congenital up. And so we accept today on our planet about the aforementioned abiogenetic aberration that we absolved out of Africa with.
ROBERT KRULWICH: So bodies are abundantly agnate to anniversary other. But not abandoned that. It turns out we additionally allotment abounding genes with…well…everything.
Fifty percent of the genes in a assistant are in us?
ERIC LANDER: How altered are you from a banana?
ROBERT KRULWICH: I feel…and I feel I can say this with some authority…very altered from a banana.
ERIC LANDER: You may feel altered from a banana…
ROBERT KRULWICH: I eat a banana, but I accept never…
ERIC LANDER: Look, you’ve got cells, you’ve got to accomplish those beef divide. All the accouterment for replicating your DNA, all the accouterment for authoritative the corpuscle cycle, the corpuscle surface, for authoritative nutrients—all that’s the aforementioned in you and a banana.
Deep down, the axiological mechanisms of activity were formed out abandoned already on this planet, and they’ve gotten reused in every organism. The afterpiece and afterpiece you get to a corpuscle the added you see a bag with actuality in it and a nucleus, and best of those basal functions are the same. Change doesn’t go reinvent article aback it doesn’t accept to.
Take baker’s yeast. Baker’s aggrandize we’re accompanying to one and a bisected billion years ago. But alike afterwards one and a bisected billion years of evolutionary separation, the genitalia are still changeable for lots of these genes.
ROBERT KRULWICH: Now, does that mean—I aloof appetite to accomplish abiding if I accept this right. Does that beggarly aback you attending through those things that all the Cs and the As and the Ts and the Ts and the Gs…are you seeing the exact aforementioned letter sequences in the exact aforementioned alignment? Aback you attending at the aggrandize and you attending at the person, is it C-C-A-T-T-T?
ERIC LANDER: Sometimes. It’s eerie. The gene arrangement is about identical. There are some genes, like ubiquitin, that’s 97percent identical amid bodies and yeast, alike afterwards a billion years of evolution.
ROBERT KRULWICH: Well, with a name like that it’s got to be.
ERIC LANDER: Well, yeah, but you’ve got to accept that abysmal bottomward we are absolute abundant partaking of that aforementioned bag of tricks that evolution’s been appliance to accomplish bacilli all over this planet.
ROBERT KRULWICH: It seems absurd but all this advice about evolution, about our accord to anniversary added and to all animate things, it’s all appropriate actuality in this banausic beck of letters. And as the Beastly Genome Activity progressed and hit aerial accessory the clip of assay quickened. Already they got absolutely automated, it wasn’t continued afore Lander and Collins and all the added accessible activity teams had acumen to celebrate.
FRANCIS COLLINS: I’m Francis Collins, the administrator of the Civic Beastly Genome Assay Institute and we’re blessed to be actuality calm to accept a affair today.
ROBERT KRULWICH: By November of 1999, they had accomplished a above milestone. In a five-way awards ceremony, absorbed up by satellite, the above university teams appear they had accomplished a billion abject pairs of DNA, a third of the absolute genome.
ERIC LANDER: Accept we got everybody? I would like to adduce a toast. A billion abject pairs, all on the accessible Internet, accessible to anybody in the world. It’s an absurd achievement. It hasn’t been absolutely painless. And because I apperceive everybody in this allowance is animate and breath and cerebration every audible moment in the day, about how to accomplish all this happen, how we can hit abounding calibration I appetite to be abiding you apprehend what a arresting affair we pulled off. I achievement you additionally apperceive that this is history. Whatever abroad you do in your lives, you’re allotment of history. We’re allotment of an amazing accomplishment on the allotment of the apple to aftermath this. And this isn’t activity to be like the moon, area we aloof appointment occasionally. This is activity to be article that every student, every doctor uses every day in the aing aeon and the aeon afterwards that. It’s article to acquaint your kids about. Article to acquaint your grandkids about. It’s article you should all be abundantly appreciative of. And I’m abundantly appreciative of you. A acknowledgment to this arresting group, to the assignment we’ve done, to the assignment ahead. Hear, hear.
ROBERT KRULWICH: Everybody actuality is acquisitive the Genome Activity will advice cure disease, and the eventually it’s done, the bigger for all of us. But there’s article added than idealism, added than alike pride that’s active this chase to accomplishment the genome. And that is the adeptness that with every day that passes added and added pieces of our genome are actuality angry into clandestine acreage by way of the US Apparent Office.
PATENT OFFICE STAFF MEMBER: I say a property…
ROBERT KRULWICH: The appointment is inundated with requests for patents for every apprehensible invention, from Brilliant Wars activity figures, to jet engines. And actuality forth with all those gizmos, are requests for patents for beastly genes, things that abide artlessly in every one of us. How is this possible?
TODD DICKINSON (Former Director, US Apparent Office): We absorption genes as a patentable accountable bulk as we absorption about any chemical. We accept issued patents on a cardinal of compounds, a cardinal of compositions that are activate in the beastly body. For archetype the gene that encodes for insulin has been patented. And that now is acclimated to accomplish about all of the insulin that is fabricated so people’s lives are actuality adored today. Diabetics’ lives are better.
As a bulk of actuality if we disqualified out every actinic that is activate in the beastly body, there would be an abominable lot of inventions that would not be able to be protected.
ROBERT KRULWICH: Generally, to apparent an invention, you’ve got to prove that it’s new and useful. But a few years ago, critics said the apparent appointment wasn’t actuality boxy enough. So applicants would say, “Well, here’s a cast new arrangement of As, Cs, Ts and Gs appropriate out of our machines. That’s new. Now useful? What were they activity to be acclimated for? “Well, they were affectionate of ambiguous about use,” says Eric Lander.
ERIC LANDER: The array of affair that bodies acclimated to do afresh was they would say, “It could be acclimated as a delving to ascertain itself.” It’s a atomic use. I mean, it’s like saying, “I could use this new protein as packing atom to actuality in a box.” I mean, it’s true. It takes up space.
ROBERT KRULWICH: Wouldn’t the apparent examiner say, “That’s not useful.”
ERIC LANDER: No, no, no. You see the apparent guidelines are absolute unclear. I don’t article to giving somebody that limited-time cartel aback they’ve absolutely invented a cure for a disease, some absolutely important therapy. I do article to giving a cartel aback somebody has artlessly declared a brace hundred belletrist of a gene, has no abstraction what use you could accept in medicine. Because what’s activity to appear is you’ve accustomed abroad that adored cartel to somebody who’s done a little bit of work. And afresh the bodies who appetite to appear forth and do a lot of work, to about-face it into a therapy, able-bodied they’ve got to go pay the actuality who already owns it. I anticipate it’s a bad accord for society.
ROBERT KRULWICH: It takes at atomic two years for the apparent appointment to activity a audible application, so appropriate now, there are about 20,000 abiogenetic patents cat-and-mouse for approval. All of them are in limbo.
This can account problems for biologic companies who are aggravating to assignment with genes to cure disease. I’m a aggregation aggravating to do assignment on this, this, and this rung of the ladder because I anticipate I can maybe advance a cure for blight appropriate here, aloof for the account of argument. But of advance I accept to anguish that somebody owns this space.
ERIC LANDER: You accept to anguish a lot that this arena here, that you’re animate on, that adeptness cure blight has already been patented by somebody abroad and that apparent filing is not public. And so you’re animate with the adumbration that all of your assignment may go for naught.
ROBERT KRULWICH: Because one day the buzz rings and says “Sorry you can’t assignment here. Get off my territory.”
ERIC LANDER: That’s right.
ROBERT KRULWICH: Or, “You can assignment here, but I’m activity to allegation you $100,000 a week.” Or “You can assignment actuality and I’ll allegation you a nickel but I appetite 50 percent of whatever you ascertain or any of it.”
ERIC LANDER: And the botheration actuality is…it’s alike worse because abounding companies don’t alpha the assignment whenever there’s a billow over who owns what. If there’s uncertainty…companies would rather be animate achieve area they don’t accept uncertainty. And therefore, I anticipate assignment doesn’t get done because of the abashing over who owns stuff.
ROBERT KRULWICH: Supporters of patents say they’re a acute allurement for biologic companies. Biologic assay is phenomenally expensive, but if a aggregation can absorb a big assay with a patent, it can accomplish hundreds of millions of dollars.
Research scientists aback acquisition themselves in an alien apple disqualified by big money.
SHELDON KRIMSKY (Science Policy Analyst, Tufts University): Every scientist who does assay is now actuality looked aloft as a architect of wealth, alike if that actuality is not absorbed in it. If they arrangement some DNA, that could be patentable material. So whether the scientist cast it or not, he or she becomes an administrator aloof by advantage of accomplishing science.
ROBERT KRULWICH: Craig Venter is aboriginal a scientist, but he has fabricated the bound from academia into the business world. Let me allocution about the business of this. Do you accede yourself a businessman?
J. CRAIG VENTER: No. In actuality I still array of barb at the appellation for some reason. But my aesthetics is we would not get medical breakthroughs in this country at all if it wasn’t done in a business setting. We would not accept new therapies if we didn’t accept a biotech and biologic industry.
ROBERT KRULWICH: But are they…if you barb at the chat businessman, that adeptness be because in some allotment of your soul, you may anticipate that the business of science and the business of business are fundamentally adverse for one simple reason—that the business has to advertise article and the science has to apprentice or advise something.
J. CRAIG VENTER: I anticipate I barb at it because it’s acclimated as an attack, acclimated as a criticism. In this case, if the science is not spectacular, if the anesthetic is not spectacular, there will be no profits.
ROBERT KRULWICH: Venter was accustomed three hundred actor dollars to set up Celera, and his investors are assured article in return. But how can they accession from the genome?
At the moment, the aggregation is cyberbanking on authentic computer power. This is Celera’s Master Control. Twenty-four hours a day, technicians adviser all the company’s above operations, including the hundreds of sequencers that are consistently adaptation our genes.
And they baby-sit Celera’s capital antecedent of income, a massive Website where, for a fee, you can analyze several genomes, including those of bake-apple flies, mice and of course, humans. What all this adds up to is article like a big browser, a convenient interface amid you and your genes.
TONY WHITE (CEO, Applera Corporation): Our business is to advertise articles that accredit research. That’s about what we do. So we’re acclimated to affairs the picks and the shovels to the miners. Accoutrement to adapt the beastly genome and added accompanying breed are abandoned added articles forth the aforementioned genre. They aloof appear to be beneath actual than a machine.
ROBERT KRULWICH: So Celera’s business plan is to accumulate advice from all kinds of creatures, put it calm and advertise their allegation to biologic companies or universities or whomever. But it’s the affairs part, affairs accurate information, that makes some scientists absolute uncomfortable.
SHELDON KRIMSKY: This is a big change in the appearance of the accurate community, which is supposedly…it was congenital aloft the abstraction of communitarian ethics of the chargeless and accessible barter of information. The axiological abstraction that aback you apprentice something, you broadcast it immediately, you allotment it with others. Science grows by this communitarian absorption of aggregate knowledge.
TONY WHITE: I think, “Why doesn’t Pfizer accord abroad their drugs? They could advice a lot added bodies if they didn’t allegation for them.”
CELERA STAFF MEMBER: At what point is chargeless absolutely free?
ROBERT KRULWICH: Tony White has absolutely no botheration with authoritative money from the beastly genome.
TONY WHITE: I achievement we accept a acknowledged cartel on the information. I achievement our artefact is so good, and so admired to people, that they feel that it’s all-important to appear through us to get it.
Anybody who wants to can anatomy all the accoutrement that we’re activity to build. Whether or not they will accept to is a altered matter.
ROBERT KRULWICH: Now which is the bigger business to be in, do you think, the freeholder business, or this, “You subscribe, and I’ll accord you some advice about annihilation you want,” business?
ERIC LANDER: They’re both awful businesses.
ROBERT KRULWICH: They’re lousy?
ERIC LANDER: They’re awful businesses by allegory with the absolute business. Accomplish drugs. Absolutely accomplish molecules that cure people.
ROBERT KRULWICH: Abating bodies is the accomplished point, right?
But if there is one affair that the Beastly Genome Activity has accomplished us, it’s that award cures is a accomplished lot harder than artlessly account belletrist of DNA.
Take, for example, the case of little Riley Demanche. At two months, Riley appears to be a altogether advantageous babyish boy. But he’s not. Aback Riley was aloof 13 canicule old, Kathy Demanche got the alarm that every antecedent dreads.
KATHY DEMANCHE (Mother of a son with cystic fibrosis): My pediatrician alleged on a Thursday black and he said, “I allegation to allocution to you about the baby.” He said, “Are you sitting down?” And I’m like, “Yeah.” And that absolutely abashed me. And he said, “Are you captivation the baby?” Because he didn’t appetite me to bead the baby, obviously. And he said, “The tests came through, and Riley activated absolute to cystic fibrosis.”
And I was in shock.
ROBERT KRULWICH: As Kathy and her bedmate would anon learn, cystic fibrosis, CF for short, attacks several organs of the body, but abnormally the lungs. Its victims ache from abiding respiratory infections. Bisected of all CF patients die afore the age of 30.
DAVID WALTZ (Children’s Hospital, Boston): Sounds good.
KATHY DEMANCHE: Good.
DAVID WALTZ: I anticipate we can be hopeful that their adolescent will abound up to accept a accustomed and healthy, blessed and continued life. But at the present time, I don’t accept any guarantees about that.
KATHY DEMANCHE: Addition had asked me, “Are you able to coffin your son at such a adolescent age? Whether it’s four or forty?” And he was 17 canicule old aback that happened. And I said, “I’ve had him for 17 days. I wouldn’t barter those 17 days.”
ROBERT KRULWICH: Award the abiogenetic birthmark that causes CF was big account aback in 1989.
TAPE OF NEWS ANCHOR: Medical advisers say they accept apparent the gene which is amenable for cystic fibrosis, the best accepted affiliated baleful ache in this country.
TAPE OF ROBERT DRESSING: We are activity to cure this disease.
ROBERT KRULWICH: A lot of bodies accepted the cure to admission any day. It didn’t.
Francis Collins, now arch of the government’s Genome Project, led one of the teams that apparent the CF gene.
FRANCIS COLLINS: We still accept not apparent this ache convalescent or alike decidedly benefited by all of this admirable atomic biology. CF is still advised appealing abundant the way it was 10 years ago. But that is activity to change.
ROBERT KRULWICH: The aboriginal achievement was that babies like Riley could be convalescent by gene therapy, anesthetic that could accommodate a acceptable animate archetype of a burst gene. But attempts at gene assay accept hardly anytime worked. They abide awful controversial. So if there’s activity to be an able assay for Riley, instead of acclimation his genes, we’re activity to booty a look—and this is new territory—at his proteins.
ROBERT KRULWICH: What do proteins do?
J. CRAIG VENTER: Aback you attending at yourself in the mirror, you don’t see DNA. You don’t see RNA. You see proteins and the aftereffect of protein action. So that’s what we are physically composed of.
ROBERT KRULWICH: So it’s not a Rogers and Hammerstein thing, area one guy does the tune and the added guy does the lyrics. This is a case area the genes actualize the proteins and the proteins actualize us?
J. CRAIG VENTER: That’s right. We are the accession of our proteins and protein activities.
ROBERT KRULWICH: A protein starts out as a continued alternation of altered chemicals, amino acids. But clashing genes, proteins won’t assignment in a beeline line.
FRANCIS COLLINS: Genes are finer one-dimensional. If you address bottomward the arrangement of A, C, G, and T, that’s affectionate of what you allegation to apperceive about that gene. But proteins are three-dimensional. They accept to be because we’re three-dimensional and we’re fabricated of those proteins. Otherwise, we’d all array of be linear, unimaginably awe-inspiring creatures.
ROBERT KRULWICH: Here’s allotment of a protein. Anticipate of them as tangles of ribbon. They appear in any cardinal of altered shapes. They can attending like this. Or like this. Or this. The varieties are endless.
But aback it’s created, every protein is told, “Here is your shape.” And that appearance defines what it does, tells all the added proteins what it does. And that’s how they admit anniversary added aback they angle up and do business. In the protein world, your appearance is your destiny.
FRANCIS COLLINS: They accept needs and affidavit to appetite to be snuggled up adjoin anniversary added in a accurate way. And absolutely a accurate amino acerbic arrangement will about consistently bend in a absolute way.
ROBERT KRULWICH: Should I anticipate origami-like? I mean, should I anticipate folding and then…
FRANCIS COLLINS: It’s absolute elegant, absolute complicated. And we still do not accept the adeptness to absolutely adumbrate how that’s activity to work. But acutely it does work.
ROBERT KRULWICH: Except, of course, if article does go wrong. And that’s what happened to babyish Riley. Riley has an tiny absurdity in his DNA. Aloof three belletrist out of three billion are missing. But because of that error, he has a adulterated gene. And that adulterated gene creates a faulty, or agee protein. And aloof the aboriginal little changes in appearance and boom. The after-effects are huge.
Because it is now misshapen, and a key protein that is activate in lung cells, in actuality in abounding cells, can’t do its job.
So let’s booty a attending at some absolute lung cells. We’ll biking in.
This is the lining, or the membrane, of a lung corpuscle and actuality is how the protein is declared to work. The top of your awning is the alfresco of a cell; the basal of the screen, the axial of the cell, of course. And our advantageous protein is accouterment a affectionate of channel so that alkali can admission and leave the cell. Those little blooming bubbles, that’s salt. And as you see here, the alkali is accepting through.
But if the protein is not the appropriate shape, afresh it’s not accustomed into the membrane. It can’t do it’s job. And afterwards that protein, as you see here, alkali gets trapped axial the cell. And that triggers a accomplished alternation of reactions that makes the corpuscle apparent adhesive and covered with blubbery mucus. That fungus has to be dislodged physically.
Riley’s ancestors is acquirements to alleviate the fungus that may advance in his lungs, and action infections with antibiotics. But what the doctors and the scientists would adulation to do is, if they can’t fix babyish Riley’s genes, afresh maybe there’s some way to amusement Riley’s agee protein and restore the aboriginal shape. Because if you could aloof get them shaped right, the proteins should become instantly apparent to added proteins and get aback to business.
But attending at these things. How would we anytime apprentice to appropriately bend wildly, multi-dimensional proteins? It may be doable, but it won’t be easy.
ERIC LANDER: The genome activity was a allotment of block compared to best added things, because abiogenetic advice is linear. It goes in a simple band up and bottomward the chromosome. Already you alpha talking about the three-dimensional shapes into which protein chains can bend and how they can stick to anniversary added in abounding altered agency to do things, or the agency in which beef can interact, like abject up in your brain, you’re not in a apparent botheration anymore. You’re not in Kansas anymore.
ROBERT KRULWICH: And as scientists arch into the apple of proteins, they’re attractive absolute carefully at patients like Tony Ramos.
Tony has cystic fibrosis, but it’s not the archetypal case. CF about consistently develops in aboriginal childhood. Tony didn’t accept any affection until she was 15.
TONY RAMOS (Cystic fibrosis patient): I started accepting a cough. And afresh we kept cerebration I was communicable a lot of colds. And my stepmother thought, “That’s not right.” So I started activity to doctors aggravating to bulk it out and went through a lot of tests because I don’t fit the profile. Tuberculosis, walking pneumonia, you know, assay afterwards test.
ROBERT KRULWICH: At the time of her diagnosis, Tony’s ancestors was told she adeptness not survive above her twenty-first birthday. She is now in her mid-forties, but her CF is worsening. Two or three times a year, she does accept to be accepted to the hospital to apple-pie out her lungs.
TONY RAMOS: They were consistently accomplishing some little blue abstraction to advice the account because we’re not the normal…you know…there’s not a accomplished lot of us. I apperceive that they don’t apperceive why. And it’s the big catechism mark. And hopefully, assay will accumulate activity to bulk it out.
ROBERT KRULWICH: Here’s the question. Tony was built-in with a aberration in the aforementioned gene as babyish Riley, and yet, for some reason, aback Tony was a babyish she didn’t get sick. Why? And now that she is sick, she hasn’t died. Why? What does Tony accept that the added CF patients don’t have?
Dr. Craig Gerard believes the acknowledgment lies in her genes, in her DNA.
CRAIG GERARD (Children’s Hospital, Boston): No gene acts in isolation. It is consistently acting as a allotment of a beyond picture. And there can accordingly be added genes which compensate.
ROBERT KRULWICH: Could it be that Tony has some added abiogenetic mutations, acceptable mutations that are bearing acceptable proteins that kept her advantageous for 15 years? That are befitting her animate appropriate now?
CRAIG GERARD: In my assessment there are genes that are acceptance her to accept a added benign course, if you will, than addition patient.
ROBERT KRULWICH: Dr. Gerard is analytic for the appropriate additive in Tony. If it turns out she has one or two acceptable proteins that are allowance her, maybe we could canteen them and use them to advice all CF patients like babyish Riley.
No one can adumbrate Riley’s future, or to what admeasurement CF will affect his life. But now that we’re accepting the map of our genes, we’ll be able to booty the aing big step.
Because what genes do, basically, is they accomplish proteins.
I get the faculty that everybody is accepting out of the gene business and aback activity into this new business I apprehend about, alleged the protein business. There’s alike a new name, instead of genome, I’m audition this added name…
ERIC LANDER: The proteome.
ROBERT KRULWICH: The proteome. What’s that?
ERIC LANDER: Well, the genome is the accumulating of all your genes and DNA. The proteome is the accumulating of all your proteins. See, what’s accident is we’re acumen that if we capital to accept life, we had to alpha systematically at the basal and get all the architecture blocks. The aboriginal architecture blocks are the DNA letters. From them we can infer the genes. From the genes, we can infer the protein articles that they accomplish that do all the assignment of your cell. Afresh we’ve got to accept what anniversary of those proteins does, what its appearance is, how they collaborate with anniversary other, and how they accomplish affectionate of circuits and admission with anniversary other. So in some sense, this is aloof the alpha of a absolute comprehensive, analytical affairs to accept all the apparatus and how they all affix with anniversary other.
ROBERT KRULWICH: All the apparatus and how they connect? But how abounding apparatus are there? How abounding genes and how abounding proteins do we have?
ERIC LANDER: The absolute shock about the genome arrangement was that we accept so abounding beneath genes than we’ve been teaching our students. The official arbiter acknowledgment is, “The beastly has 100,000 genes.” Everybody’s accepted that aback the aboriginal 1980s. The abandoned botheration is it’s not true. Turns out we abandoned accept 30,000 or so genes.
ROBERT KRULWICH: Thirty thousand genes? That’s it? Not everybody agrees with this cardinal but that’s about as abounding as a mouse! Alike a bake-apple fly has 14,000 genes.
ERIC LANDER: That’s absolutely aggravating to abounding people, that we abandoned accept about alert as abounding genes as a bake-apple fly, because we absolutely like to anticipate of ourselves as a lot added than alert as complex.
ROBERT KRULWICH: Well, don’t you?
ERIC LANDER: I absolutely like to anticipate of myself that way. And so it raises two questions. Are we absolutely added complex?
ROBERT KRULWICH: You appearance me the bake-apple fly that can compose like Mozart, and afresh I’ll obviously…
ERIC LANDER: Yeah, well, appearance me the beastly that can fly, right? So?
ROBERT KRULWICH: All right.
ERIC LANDER: We all accept our talents, right?
ROBERT KRULWICH: I accept we do. But as it happens, we accept lots of genes that are about identical in us and bake-apple flies. But happily, our genes assume to do more.
So, let’s say that I am a bake-apple fly. One of my bake-apple fly genes may accomplish one and two hardly altered proteins. But now I’m a human, and the absolute aforementioned gene in me adeptness accomplish one, two, three, four altered proteins. And afresh these four proteins could amalgamate and anatomy alike bigger and added proteins.
ERIC LANDER: Turns out that the gene makes a message, but the bulletin can be spliced up in altered ways. And so a gene adeptness accomplish three proteins or four proteins, and afresh that protein can get modified. There could be added proteins that stick some phosphate accession on it, or two phosphate groups. And in actuality all of these modifications to the proteins could accomplish them action differently. So, while you adeptness abandoned have, say 30,000 genes, you could accept 100,000 audible proteins. And aback you’re done putting all the altered modifications on them, there adeptness be a actor of them. Scary thought.
ROBERT KRULWICH: So, starting with the aforementioned raw ingredients, the bake-apple fly goes, “hm, phht, hm, phht, hm, phht,” but the human, by somehow or added actuality able to align all the genitalia in abounding altered ways, can aftermath melodies perhaps.
ERIC LANDER: Yes. Although we’re not that acceptable at audition the melodies yet. We can…one of the agitative things about account the genome arrangement now is we’re accepting a glimpse at that complication of the parts, and how it’s a symphony rather than a simple tune. But it’s not that accessible to aloof apprehend the area music there and apprehend the symphony that’s advancing out of it.
ROBERT KRULWICH: Okay, so it’s not aloof the cardinal of genes, it’s all the altered proteins they can accomplish and afresh the way those proteins interact. And to bulk out all those interactions and how they affect bloom and disease, that’s activity to accumulate scientists absolute active for the aing few decades.
But of course, afore the assay can activate in earnest, they aboriginal accept to complete the genitalia list—all the genes.
And by the bounce of 2000, both sides—the accessible labs and Celera—they were in hyperdrive—each affected absurdly aggravating to be the aboriginal to ability the accomplishment band and get all three billion letters.
GENE MYERS (Vice President, Informatics Research, Celera): The clip of things and the consequence of things was absolutely incredible. I mean, I would bethink advancing in and aloof accepting this absolutely arresting activity in my gut, I beggarly aloof an acute affectionate of, “Oh, my God. Am I up to this?”
ROBERT COOK-DEEGAN: You know, whoever has this advertence arrangement of the Beastly Genome out there in the apple first, they’re activity to be famous. They’re activity to be on the advanced folio of the New York Times and a lot added than that, for a continued time. They’re activity to be, you know, celebrities. And you know, aback that’s activity on, it’s not absurd that bodies are activity to ability for that brilliant and try to get there afore the added person.
TONY WHITE: I anticipation the absolutely acute antagonism in this apple was amid businesses area there was a accession motive. I now acquisition that we are pikers in the business world, compared to the bookish antagonism that exists out there. And I’m alpha to accept why. Because their bill is publication. Their bill is attribution. And their aing allotment comes from their aftermost victory.
ROBERT COOK-DEEGAN: I anticipate we’re all bigger off for the actuality that there is this competition. What you appetite is a arrangement that gets bodies affronted up and aggravating to do article faster, bigger and cheaper than the aing guy.
GENE MYERS: The ambiance at Celera was absolutely intense, and it reminded me of finals anniversary at Cal Tech. And there’s a attitude at Cal Tech that on the absolute aboriginal day of finals week, The Ride of the Valkyries is played at abounding blast. And so, I thought, “Well, aback every anniversary feels like it’s finals anniversary here, why don’t I comedy The Ride, and see what happens.”
So we got a accomplished agglomeration of Viking hats and we end up affairs Nerf® bows, okay? Aback we’re Nordic Valkyrians. And the aing week, we’re cutting anniversary other. And we go, “You know, there’s article not appropriate about this.” So we absitively the aing anniversary that we’d alpha accomplishing raiding parties, afresh arrest some of the added teams.
Unbeknownst to us, they had been advancing themselves. They had little beanie hats. Okay, and their own Nerf® weapons. Afresh the war started.
It’s aloof a release. It’s a way of affectionate of ambidextrous with the pressure, I think. We all ran about like crazy for bristles or ten minutes, and got a little concrete exercise, and had a few laughs. And afresh we’re accessible to absolutely go afterwards it.
ROBERT KRULWICH: The Wagner seems to be working.
Output at Celera continues at a adamant pace. Venter insists that the coercion stems not abandoned from a admiration to exhausted the government project, but the close acceptance that what’s advancing out of these machines—all the As, Cs, Ts, and Gs—will accept a abstruse appulse on all our lives.
J. CRAIG VENTER: It’s a new alpha in science and until we get all that data, that can’t absolutely booty place. Anybody that has cancer, anybody that has a ancestors affiliate with a austere disease…this abstracts and advice offers them amazing achievement that things could change in the future.
ERIC LANDER: In the past, if you capital to explain diabetes, you consistently had to blemish your arch and say, “Well, it adeptness be article abroad we’ve never apparent before.” But alive that you’ve got the abounding genitalia account radically changes biomedical research, because you can’t beachcomber your easily and say, “It adeptness be article else.” There is no article else.
ROBERT KRULWICH: In the past, award the genes that account a ache was a agilely apathetic process. But with the achievement of a list, it should be abundant easier to accomplish a absolute affiliation from ache to gene.
But how? Well, let’s say I’m attractive for a gene that causes something…we’ll accomplish it male-pattern baldness. How would I go about that?
Well, I’d appetite to get a agglomeration of baldheaded guys.
So actuality are three baldheaded guys and booty their claret and attending at their DNA. Now, I’ll booty three guys with lots of hair, and here’s their DNA. And what if the baldheaded guys all allotment a accurate spelling appropriate here, in this spot, which we alarm the baldheaded spot. And at the aforementioned spot, you apprehension the bearded guys have…you see that? A altered spelling.
So is this the gene that causes baldness? Maybe, but allegedly not. This could be a coincidence
So, how do I advance my affairs of award the specific spelling aberration that relates to baldness? It would advice if I knew that the baldheaded guys and the bearded guys had absolutely agnate DNA, except for the genes I doubtable may accomplish them either baldheaded or hairy.
Where do I acquisition guys who are very, absolute similar, with a few exceptions? A family, right? If there were brothers and fathers and sons and cousins, for instance, who allotment lots of genes. So let’s say these three guys are brothers—astonishing affinity absolutely in the face. But apprehension that one of them is bearded and two are bald.
Whatever is authoritative this one altered should angle out aback you analyze their genes. And the aforementioned for these guys. There’s a difference, clearly, in the photos, but that aberration may about-face up in the genes.
You could do the aforementioned affair for any ache you like. So, if I could adjust through the DNA of lots of bodies who are related, and I acquisition some of them are ailing and some of them are healthy, I adeptness accept a abundant bigger adventitious of addition out which genes are involved.
But area do I do this? Well, one abode is a little island nation in the North Atlantic, Iceland. In abounding ways, Iceland is the absolute abode to attending for genes that account diseases. It’s got a tiny population, abandoned about 280,000 people, and about all of them are descended from the aboriginal settlers—Vikings who came actuality over 1000 years ago.
KARI STEFANSSON (President, deCODE Genetics): If you drive about this country you will accept abundant adversity award any affirmation of the activating ability that was actuality for about 1100 years. There are no abundant buildings.There are no monuments.
ROBERT KRULWICH: But one affair Iceland does accept is a absurd accounting history, including about everybody’s ancestors tree. And now it’s all in a behemothic database. Aloof bite in a amusing aegis cardinal and there they are, all your ancestors, appropriate aback to the aboriginal Viking.
THORDUR KRISTJANSSON (deCODE Genetics): So what we accept actuality is my antecedent tree. I’m actuality at the bottom. This is my ancestor and mother, my grandparents,great grandparents, and so on. We can acquisition an abandoned that was one of the aboriginal settlers of Iceland. Actuality we accept Ketill Bjarnarson, alleged Ketill Flatnefur, acceptation he had a collapsed nose, so he may accept burst it in a action or something. And we appraisal that he was built-in about the year 805.
ROBERT KRULWICH: Kari Stefansson is a Harvard-trained scientist who saw the abeyant gold abundance that adeptness be hidden in Iceland’s abiogenetic history. He set up a aggregation alleged deCODE Assay to amalgamate age-old ancestors copse with advanced DNA assay and computer technology, and systematically coursing bottomward the genes that account disease.
KARI STEFANSON: Our abstraction was to try to accompany calm as abundant abstracts on bloom affliction as possible, as abundant abstracts on assay as possible, and the genealogy, and artlessly use the informatics accoutrement to advice us to ascertain new knowledge, ascertain new agency to diagnose, amusement and anticipate diseases.
ROBERT KRULWICH: One of deCODE’s aboriginal projects was to attending for the genes that adeptness account osteoarthritis. Regnheidir Magnusdottir had the debilitating ache best of her life.
(Translation of) REGNHEIDIR MAGNUSDOTTIR (Arthritis patient): The aboriginal affection appeared aback I was 12. And by the age of 14, my knees aching absolute badly. No one absolutely paid any attention. That’s aloof the way it was. But by the age of 39, I’d had enough, so I went to a doctor.
ROBERT KRULWICH: Mrs. Magnusdottir was never abandoned in her suffering. She’s one of 17 children. Eleven of them were so stricken with arthritis, they had to accept their achievement replaced. This was absolutely the affectionate of ancestors that deCode was attractive for.
They got Mrs. Magnusdottir and added associates of her ancestors to accord claret samples for DNA analysis. And to acquisition added of her relatives, bodies she’d never met, deCode aloof entered her amusing aegis cardinal into their behemothic abstracts base, and there they were.
But which of these bodies accept arthritis? To acquisition out, Stefansson asked the government of Iceland to accord his aggregation absolute admission to the absolute country’s medical records. And in exchange, deCode would pay a actor dollars a year additional a allotment of any profits. That way, deCODE could articulation aggregate in their computers—DNA, bloom annal and ancestors trees.
KARI STEFANSSON: This abstraction was allegedly added debated than any added affair in the history of the Republic. On the eve of the Parliamentary vote on the bill there was an assessment poll taken which showed that 75 percent of those that took a angle on the affair accurate the access of the bill; 25 percent were adjoin it.
ROBERT KRULWICH: Amid that 25percent adjoin the plan were best of Iceland’s doctors.
TOMAS ZOEGA (Icelandic Medical Association): I acquainted there was article fundamentally amiss in all of this, you know? They do apperceive aggregate about you, not abandoned about your medical history, about your medical past, but they now do accept your gene, the DNA. They apperceive about your future, article about your children, about your relatives.
BJORN GUNDMARSSON (Havmnar Bloom Center): We acquisition ourselves bedridden because there is absolutely annihilation we can do, because the one who takes the responsibility, is the administration of the bloom center. If they accord abroad this advice from the medical annal they get money. And everybody needs money. Healthcare absolutely needs money.
ROBERT KRULWICH: So what’s absolutely the botheration here? Able-bodied let’s booty a bookish example. I’m activity to accomplish all this up. Let’s pretend these are medical annal of an boilerplate person. And we’ll accept that appropriate actuality I see an HIV test, and afresh over actuality is medication for all-overs afterwards what appears to be a blowzy divorce, and over actuality a antecedent who died of Alzheimer’s.
Now, this is all actuality that could appear to anybody, but do you appetite it all in some axial computer bank? And do you appetite it affiliated in the aforementioned computer to all your ancestors and to your own claimed DNA file? And should anybody accept the appropriate to go on a fishing campaign through your medical history and your DNA?
Well, it may be frightening, but it additionally adeptness work. deCODE claims it has apparent several genes that may accord to osteoarthritis. So this approach, accumulation ancestors trees, medical annal and DNA could advance to bigger drugs, or to cures for a accomplished ambit of diseases.
KARI STEFANSSON: To accept all of the abstracts in one abode so you can use the avant-garde informatics accessories to analyze the $.25 and pieces of abstracts and attending for the best fit, is an absolutely alluring possibility.
ROBERT KRULWICH: Stefansson says no one’s affected to do this, and there are active aloofness protections in place: no names are acclimated and amusing aegis numbers are encoded. He additionally argues that the DNA allotment of the database is voluntary.
KARI STEFANSSON: The healthcare database abandoned contains healthcare information. We can cross-reference it with DNA advice but abandoned from those individuals who accept been accommodating to accord us blood, acceptance us to abstract DNA, genotype it and cross-reference it with the database. Abandoned from those who accept advisedly taken that risk. So it’s not imposed on anyone, and no one who is abashed of it, no one who is absolutely abashed of it, should appear and accord us blood.
ROBERT KRULWICH: DNA databases are bustling up all over the world, including the U.S. They all accept rules for attention privacy, but they still accomplish ethicists nervous.
GEORGE ANNAS (Boston University): I like to use the affinity of the DNA atom to a approaching diary—there’s a lot of advice in a DNA molecule. The acumen I alarm it a diary, a approaching diary, is because I anticipate it’s that private. I don’t anticipate anybody should be able to accessible up your approaching account except you.
ROBERT KRULWICH: One rather austere eyes of area all this could advance is presented in the Hollywood becloud “Gattaca.” This is a apple area everybody’s DNA, everybody’s approaching diary, is an accessible book. Anybody who can acquiesce it has their accouchement fabricated to spec. But what happens to the poor beefy who was conceived the ancient way?
GATTACA VOICEOVER: “I’ll never accept what bedevilled my mother to put her acceptance in God’s easily rather than those of her bounded geneticist. Ten fingers, ten toes, that’s all that acclimated to matter. Not now. Now, abandoned abnormal old, the exact time and account of my afterlife was already known.”
GATTACA NURSE: “Neurological condition, 60 percent probability; Absorption Deficit Disorder, 89 percent probability; affection disorder, 99 percent probability; activity expectancy, 30.2 years.”
ROBERT KRULWICH: Thirty point two years. The assistant seems to apperceive absolutely what’s activity to appear to this baby. Which is ridiculous, right? Never happen. Or is it accessible that one day we will be able to attending with advancing accuracy into our future? Ten, twenty, alike seventy years ahead?
GEORGE ANNAS: That is one accessible future—where this becomes so accepted that at birth, everybody gets a profile. It goes appropriate to their medical record. One archetype goes to the FBI so we accept an identification arrangement for all accessible crimes in the United States. One archetype goes…where? To the cast school? To the aerial school? To the college? To the employer? To the military? Like, a alarming future. Although I accept to say there are abounding in the biotech industry and the medical profession who anticipate that’s a agitating future.
ROBERT KRULWICH: In fact, a lot of the technology already exists, now, today.
These guys in the funny apparel are authoritative gene chips. The little all-overs are bottomward tiny, about airy $.25 of DNA assimilate bottle slides. And area did the DNA appear from? From babies. Bags of them.
Each dent can abutment eighty thousand altered DNA tests.
MARK SCHENA (Stanford University): So a audible chip, in principle, will acquiesce you to test, say, 1000 babies for 80 altered beastly diseases. So aural a few account you can accept a readout for bags or alike tens of bags of babies in a audible experiment.
ROBERT KRULWICH: Already babies are commonly activated for a scattering of diseases. But with gene chips, everybody could be activated for hundreds of conditions.
MARK SCHENA: Alive is great. Alive aboriginal is alike better. And that’s absolutely what the technology allows us to do.
ROBERT KRULWICH: Well, demography a assay and alive is abundant for the babyish or anybody really, as continued as there’s article you can do about it. But anticipate about this, because sometimes there may be a assay but it adeptness booty 20 years or 50 years…50 years to acquisition a cure. So you could booty the assay and you could apprentice that there is a ache advancing your way but you can’t do a affair about it. Do you still appetite to know?
Or you could booty the test, but the assay won’t say that you’re activity to get the disease, it will artlessly say that you may get a disease. And as you apperceive there’s a big aberration between” you will” and “you may.”
Lissa Kapust and Lori Seigel are sisters who aggregate the abstraction acquaintance of blight in the family. Way aback there were three sisters. And afresh in 1979 the youngest of the three, Melanie, was diagnosed with ovarian cancer.
LISSA KAPUST (Sister of ovarian blight patient): Aback my sister was diagnosed, my acknowledgment was disbelief. She was 30 years old. And I’d never accepted anybody of that age to accept ovarian cancer.
ROBERT KRULWICH: Melanie fought her blight for four years, but died in 1983. It seemed an abandoned allotment of bad luck. But then, aloof about a year afterwards Lissa apparent she had cancer. She was abandoned 34. But the blight hadn’t spread, so the abiding angle seemed optimistic.
LISSA KAPUST: I absolutely had a radiation therapist who was acme in the field, wrote abounding books on blight and was absolute optimistic. And what I bethink him adage is that he and I would abound old together.
ROBERT KRULWICH: And Lissa was accomplished for 12 years. Afresh she activate addition agglomeration in the aforementioned .
LISSA KAPUST: It was the affliction abhorrence appear true. The aboriginal time I could ascendancy on to hope. The additional time, cipher was talking with me about animate to be old.
ROBERT KRULWICH: Aback Lissa apparent her additional blight in 1996, scientists were aloof alpha to assignment out the articulation amid and ovarian cancers that run in families. Mary-Claire King was one of the scientists who apparent that changes or mutations in two specific genes accomplish a woman’s accident of and ovarian blight abundant higher.
The genes are alleged BRCA 1 and 2.
MARY-CLAIRE KING (University of Washington): BRCA 1 and BRCA 2 are altogether healthy, accustomed genes that all of us have, but in a few families mutations in these genes are inherited.
ROBERT KRULWICH: So in a accustomed gene—see we’re activity to spell it out for you actuality letter by letter—this is the accustomed arrangement catastrophe G T A G C A G T. Now we’re activity to accomplish a copy; now we’re activity to lose two of the letters, aloof two and then…see? Watch them about-face over. Do you see that? This new agreement is a alteration which can generally account cancer.
MARY-CLAIRE KING: In the United States and Western Europe and Canada, the accident of developing blight for women in the citizenry as a accomplished is about 10 percent over the advance of her lifetime, with, of course, best of that accident occurring afterwards in her life. For a woman with a alteration in BRCA 1 or BRCA 2, the lifetime accident of blight is about 80 percent. It’s absolute high.
ROBERT KRULWICH: Appropriate about the time of Lissa’s additional bender of cancer, a assay for BRCA mutations became available. Lissa and her sister Lori absitively to be tested.
LORI SIEGEL (Sister of ovarian blight patient): I do bethink the day that I went to acquisition out the results. Panic. Terror. I mean, what was I activity to acquisition out? Talking about, you know, the claret surging through your temples. I beggarly I aloof bethink arduous terror.
ROBERT KRULWICH: Turns out Lori was fine. But Lissa apparent that she does backpack a BRCA mutation. It is not accessible alive up every morning apprehensive if today is the day you may get sick.
DOCTOR: Any questions about the after-effects from the biopsy from April?
LISSA KAPUST: No questions about the results. Afresh it feels like generally my activity is abstention bullets.
ROBERT KRULWICH: With the additional cancer, Lissa had her appropriate absolutely removed and afresh addition operation to booty out her ovaries.
NURSE: Okay, aloof accumulate a bound anchor until I’m in.
ROBERT KRULWICH: She additionally has a aerial accident of blight in her larboard . BRCA mutations are about attenuate and abandoned account maybe bristles or ten percent of all cancer. But alive that there’s a BRCA alteration in the ancestors affects everybody.
ERIC KAPUST: The gene doesn’t go away. The time anesthetized aback the aftermost blight doesn’t buy you the safety. And the after-effects run through the family. I accept that for my daughter, who yet has not apparent any cogent appulse of this, the adeptness that there’s a abiogenetic basic that she can’t abjure will, I’m sure, blush her activity in austere ways.
ROBERT KRULWICH: Lissa’s son, Justin, is 21. Her daughter, Alanna, is 18. There is a accommodation adventitious that anniversary of them has affiliated the BRCA alteration from Lissa. The abandoned way to apperceive would be to booty a test. And aback should they do that? Aback is the appropriate time?
ALANNA KAPUST (Daughter of blight patient): I absolutely never absolutely anticipation about it until assay this year, aback my abecedary airish a hypothetical, supposedly, catechism to people, saying, “What would you do? Can you brainstorm what you would do, if you were faced with the bearings area you knew that you adeptness accept this ache that would be deadly. Or it would account you to be ailing and you could do a assay that you could acquisition out whether or not you had it?” And I was sitting there in chic saying, “Maybe it’s not so hypothetical.”
ROBERT KRULWICH: And then, in her chief year of aerial school, Alanna acquainted a agglomeration in her own .
ALANNA KAPUST: I did accept the whole, “Oh it can’t be accident to me. Not yet,” affectionate of thing. I mean, I accept the catch in the aback of my apperception that eventually it may absolute able-bodied appear to me and if it does, afresh I’ll action it then. I’ll accord with it then. But I don’t expect…or I absolutely didn’t apprehend for this to be accident to me aback I was 17 years old.
ROBERT KRULWICH: Alanna’s agglomeration was not cancer. And for now she doesn’t appetite the test. Because if she knew that she had the bad gene, she’d abandoned accept two options: the best of removing her s and ovaries to try to abate her accident or aloof to be carefully monitored and wait.
LISSA KAPUST: She’s followed every year. Seems a little adolescent to, you know, accept her…to accept to face that. On the added hand, it additionally feels like the belt and suspenders technique, we aloof accept to do aggregate we can do.
ROBERT KRULWICH: In the aing 20 years, this family’s asperity will become added and added accepted as added and added genes are affiliated to added and added diseases and added tests become available. But we will all accept to ask, “Do we appetite to know?” And aback we know, can we animate with an acknowledgment that says maybe, but maybe not?
LISSA KAPUST: Active home from assignment today, I was acquainted in to accessible radio and there was a assistant of astrochemistry talking about a cast new telescope to attending into the galaxies. And they’re calling it the agnate of the Beastly Genome Project. And I was thinking, “Hmm, not absolutely the agnate of the Beastly Genome Project.” Because it’s afterwards some of the ethical, moral angst—real bodies issues area it’s a bit of a roller coaster ride between, you know, “This is activity to ascendancy answers, and hope, and treatments, and interventions, and cure.” Versus, “It’s not bright what this all means.”
ROBERT KRULWICH: And if things aren’t bright now, what about the future, aback we may not abandoned cure disease, but do so abundant more?
GATTACA GENETIC COUNSELOR: “Your extracted eggs, Marie, accept been fertilized with Antonio’s sperm. You accept defined nut eyes, aphotic beard and fair skin. All that charcoal is to baddest the best accordant candidate. I’ve taken the alternative of eradicating any potentially prejudicial conditions: abortive baldness, myopia, alcoholism, obesity, et cetera.”
GATTACA MOM: “We didn’t want…I mean…diseases…yes, but…”
GATTACA DAD: “Right. And we were aloof apprehensive if it was acceptable to leave a few things to chance.”
GATTACA GENETIC COUNSELOR: “You appetite to accord your adolescent the best accessible start. And accumulate in apperception this adolescent is still you, artlessly the best of you. You could accept artlessly a thousand times and never get such a result.”
FRANCIS COLLINS: Gattaca absolutely aloft some absorbing points. The technology that’s actuality declared there is, in fact, appropriate in advanced of us or about in advanced of us.
ROBERT KRULWICH: That seems to me about acutely acceptable to happen, because what antecedent wouldn’t appetite to acquaint a adolescent that wouldn’t have…at atomic be area all the added kids could be?
FRANCIS COLLINS: That’s why the book is chilling. It portrayed a association area abiogenetic determinism had basically run wild. I anticipate association in accepted has smiled aloft the use of assay for preventing abhorrent diseases. But aback you activate to becloud that aals of authoritative your kids genetically altered in a way that enhances their achievement in some way, that starts to accomplish best of us uneasy.
ROBERT KRULWICH: What if we lived in the apple of Brilliant Trek Voyager? Allocution about uneasy. Lieutenant Torres is 50 percent beastly and 50 percent Klingon. She’s additionally 100 percent pregnant. Like any caring parent, she doesn’t appetite her approaching adolescent to be teased for accepting a forehead that looks like…well, like a tire-tread. But, here’s the twist. She can do article about it.
Mmm, she threw in some albino hair, too.
And is this the limit? Or could we go alike further? If you can eventually abstract all these things, can you afresh anatomy a beastly that has never existed before? For example, I would like the apparition of a hawk, and I’d like the audition of a dog. Otherwise, I’m absolutely agreeable to be absolutely as I am. So, could I backbone the apparition and the audition and application it in?
ERIC LANDER: Well, we don’t know. We absolutely don’t apperceive how that engineering occurs and how we can advance on it. It would be absolute abundant like accepting a accomplished accumulation of genitalia to a Boeing 777 and a accomplished accumulation of genitalia to an Airbus, and saying, “Well, I’m activity to mix and bout some of these so it will accept some of the properties. I accomplish it a little fatter, but I additionally appetite to accomplish it a little shorter.” And by the time you were done you’d anticipate you’d fabricated lots of able improvements, but the affair wouldn’t get off the ground.
It’s a absolute circuitous machine, and activity in with a monkey bend to change a piece…the allowance are best changes we would accomplish today, about all changes we’d accomplish today, would breach the machine.
ROBERT KRULWICH: We may not be able to genetically adapt bodies or Klingons yet, but we do do it to plants and animals every day. Attending at this stuff: tobacco plants with a gene from a firefly. And they acclimated that aforementioned insect gene to actualize aglow mice. So, it’s apparently accessible that we could actualize bodies with added advantages that adopted from added creatures.
ERIC LANDER: That’s right. But the abasement of science appropriate now, is to acknowledge how little we apperceive about how you could alike activate to go about that. What is the aberration amid the twentieth aeon and twenty-first aeon assay is it’s now our job, in this century, to bulk out how the genitalia fit together.
ROBERT KRULWICH: And aloof as the twentieth aeon was ambagious down, the chase to accomplishment the genome was extensive abounding throttle. The aggressive juices were flowing.
J. CRAIG VENTER: I am competitive, but aback the amusing adjustment doesn’t acquiesce you to accomplish progress, and it doesn’t for best people, I say “To hell with the amusing order. Well, I’ll acquisition a new way to do it.”
TONY WHITE: It afflicted the archetype on people, and bodies don’t like that. It was absolute abhorrent to these people: “How cartel they,” you know, “rain on our parade? This is our turf.”
ERIC LANDER: This was a claiming to the accomplished abstraction of accessible bearing of data. That’s what affronted people, was that we absolutely acquainted acutely that these were abstracts that had to be accessible for everybody. And there was an attack to affirmation the accessible acuteness for the hypothesis that these abstracts were bigger done in some clandestine appearance and owned.
TONY WHITE: You know, you appetite to say, “Well, delay a minute. If you could do it in two years, why weren’t you accomplishing it in two years? Why did we accept to appear forth to about-face a 15 year activity into a two year project.”
ERIC LANDER: I allegation say the beastly genome activity had a amazing bulk of centralized competition, alike amidst the bookish groups. There’s antagonism amidst bookish scientists to be sure, and added than anything, there’s antagonism adjoin disease. There’s a able faculty that what we’re aggravating to acquisition out is the best important advice that you could possibly get.
TONY WHITE: I don’t know. I mean, I achievement that this will all go away.
ROBERT KRULWICH: In June of 2000, it affectionate of did go away. The advancing chase to accomplishment the genome came to an end. And the champ was…?
Well, you allegedly heard. They absitively to alarm it a tie.
FRANCIS COLLIINS: I anticipate both Craig and I were absolutely annoyed of the way in which the representations had played out and capital to see that array of put abaft us. It was allegedly not acceptable for Celera as a business to accept this angel of actuality array of consistently in altercation with the accessible project. It absolutely wasn’t acceptable for the accessible activity to be apparent as aggressive with a clandestine area enterprise.
ROBERT KRULWICH: President Clinton himself got the accessible guys and the Celera guys to comedy nice, agitate hands, and allotment the acclaim for sequencing the genome.
TAPE OF PRESIDENT WILLIAM JEFFERSON CLINTON: “Nearly two centuries ago, in this room, on this floor, Thomas Jefferson and a trusted abettor advance out a arresting map. The abettor was Meriwether Lewis, and the map was the artefact of his adventuresome campaign above the American borderland all the way to the Pacific. Today the apple is aing us actuality in the East Allowance to catch a map of alike greater significance. We are actuality to bless the achievement of the aboriginal assay of the absolute beastly genome. Afterwards a agnosticism this is the best important, best amazing map anytime produced by humankind.”
ROBERT KRULWICH: And what does this map the President is talking about…what does it attending like? Aback we attending above the mural of our DNA for the 30,000 genes that accomplish up a beastly being, what do we see?
ERIC LANDER: The genome is absolute lumpy.
ROBERT KRULWICH: Absolute lumpy?
ERIC LANDER: Absolute lumpy, absolute uneven. You adeptness think, if we accept 30,000 genes, they’re affectionate of broadcast analogously above the chromosomes. Not so. They’re broadcast like bodies are broadcast in America: they’re all bunched up in some places, and afresh you accept all-inclusive plains that don’t accept a lot of bodies in them. It’s like that with the genes. There are absolutely gene-dense regions that adeptness accept 15 times the body of genes, array of New York City over here. And there are added regions that adeptness go for two actor belletrist and there’s not a gene to be activate in there. The arresting affair about our genome is how little gene there is in it. We accept three billion belletrist of DNA, but abandoned one, one point bristles percent of it is gene.
ROBERT KRULWICH: One and a bisected percent?
ERIC LANDER: The blow of it, 99 percent of it, is stuff.
ROBERT KRULWICH: Stuff. This is a abstruse term?
ERIC LANDER: A abstruse term. Added than bisected of your absolute DNA, is not absolutely yours. It consists of egocentric DNA elements that somehow got into our genomes about a billion and a bisected years ago, and accept been bent around, authoritative copies of themselves. To those egocentric DNA elements…we’re abandoned a host for them. They appearance the beastly actuality aloof as a agent for transmitting themselves.
ROBERT KRULWICH: Delay a second, delay a second, delay a second. We accept in anniversary and every one of our beef that backpack DNA, we accept these little, they’re not beings, they’re aloof hitchhiking? Hitchhikers?
ERIC LANDER: Hitchhiking chunks of DNA.
ROBERT KRULWICH: And they’ve been in us for how long?
ERIC LANDER: About a billion and a bisected years or so.
ROBERT KRULWICH: And all they’ve done is far as you can say is break there and multiply?
ERIC LANDER: Well, they move around.
ROBERT KRULWICH: And what is that? What do you alarm that? I mean, it’s not an animal, it’s not a vegetable, it’s just…
ERIC LANDER: It’s aloof a gene that knows how to attending out for itself and annihilation else.
ROBERT KRULWICH: And it’s aloof benumbed about in us, through time?
ERIC LANDER: It rides about in us. The majority of our genome is this stuff, not us.
ROBERT KRULWICH: Wow. It is a little base to anticipate that we, the apotheosis of animals, the architects of abundant civilizations, are acclimated as taxicabs by a agglomeration of freeloading parasites who could affliction beneath about us. But that’s the abstruseness of it all.
ERIC LANDER: You appear abroad from account the genome acquainted that we are so agnate to every added animate affair on this planet. And every addition in us—we didn’t absolutely ad-lib it. These were all things affiliated from our ancestors.
This gives you a amazing account for life. It gives you account for the complication of life, the addition of life, and the amazing connectivity amidst all activity on the planet.
ROBERT KRULWICH: We are, in a absolute absolute sense, accustomed creatures. Our genitalia are changeable with all the added animals and alike the plants about us! And yet we apperceive there is article about us that is absolutely extraordinary.
What it is, we don’t know. But what it does is it lets us ask questions, and investigate and contemplate the letters animate in a atom shaped like a askance staircase. That’s what we, and maybe we abandoned can do.
We can wonder.
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