Ladies and gentlemen, I present to you the human genome.
Jaun-Andreak Giza-genoma aurkeztu nahi dizuet
(Applause)
(Txaloak)
Chromosome one -- top left, bottom right -- are the sex chromosomes. Women have two copies of that big X chromosome; men have the X and, of course, that small copy of the Y. Sorry boys, but it's just a tiny little thing that makes you different. So if you zoom in on this genome, then what you see, of course, is this double-helix structure -- the code of life spelled out with these four biochemical letters, or we call them bases: A, C, G and T. How many are there in the human genome? Three billion. Is that a big number? Well, everybody can throw around big numbers. But in fact, if I were to place one base on each pixel of this 1280x800-resolution screen, we would need 3,000 screens to take a look at the genome. So it's really quite big.
Lehenengo kromosoma, goiko ezkerraldean Beheko eskuinaldean, sexu-kromosomak daude. Emakumeek X kromosoma handi horren bi kopia dituzte gizonek X-a daukate Eta, nola ez, Y kromosomaren kopia txiki hori Sentitzen dut, mutilak, baina ezberdin egiten zaituzten bakarra gauza txiki hori da. Orduan, genoma hori ikusteko gerturatzen bazara, ikusi ahal duzuena, nola ez, helize-bikoitzaren egitura da. bizi-kodea lau letra biokimiko horiekin idatzita edo guk aipatzen ditugun bezala, baseak, ondo: A, C, G eta T Zenbat daude giza-genoman? Hiru mila milioi. Zenbaki handia da, ezta? Ondo, edozeinek zenbaki handiak erakuts ditzake Baina, egia esanda, nik base bat kokatuko banu bereizmen handiko 1280 x 800-ko pantaila honetako pixel bakoitzean 3000 pantaila beharko genituzke genoma osoa begiratzeko. Hots, nahiko handia da.
And perhaps because of its size, a group of people -- all, by the way, with Y chromosomes -- decided they would want to sequence it.
Eta, agian, tamainaren ondorioz, pertsona talde batek -- denak Y kromosomadunak, gainera -- berau sekuentziatzea erabaki zuten.
(Laughter)
(Algarak)
And so 15 years, actually, and about four billion dollars later, the genome was sequenced and published. In 2003, the final version was published, and they keep working on it. That was all done on a machine like this. It costs about a dollar for each base -- a very slow way of doing it.
Eta 15 urte pasatu eta lau mila miloi dolar gastatu eta gero genoma sekuentziatu eta lana argitaratu zuten. 2003. urtean, azkenengo bertsioa argitaratu zuten eta oraindik lan egiten jarraitzen dute . Lan hori hau bezalako makina batean egin zen. Dolar bat base bakoitzeko -- efikazia gutxiko era.
Well, folks, I'm here to tell you that the world has completely changed, and none of you know about it. So now what we do is take a genome, we make maybe 50 copies of it, we cut all those copies up into little 50-base reads, and then we sequence them, massively parallel. Then we bring that into software and reassemble it, and tell you what the story is. So to give you a picture of what this looks like, the Human Genome Project: 3 gigabases, right? One run on one of these modern machines: 200 gigabases in a week. And that 200 is going to change to 600 this summer, and there's no sign of this pace slowing. The price of a base, to sequence a base, has fallen 100 million times. That's the equivalent of you filling up your car with gas in 1998, waiting until 2011, and now you can drive to Jupiter and back twice.
Ondo adiskideak, orain kontatuko dizuet munduak zeharo aldatu da eta zuetako inor ez da konturatu Orain genoma hartzen dugu, 50 kopia egiten ditugu agian kopia horiek berrogeita hamar baseko segmentuetan moztu eta gero sekuentziatu egiten dugu modu paraleloan. Eta gero software batera pasatu eta gero berregin zuei emaitzak emateko. Eta horrela lortzen ditugu genomaren itxura ikustea. Hau da, Giza-Genomaren Proiektua: 3 gigabase, ondo. Makina horietako egite bat: 200 gigabase astero. Eta uda honetan 200-etik 600-era igaroko dugu. eta badirudi abiadura hori ez dela motelduko. Orduan, base baten prezioa, base bat sekuentzia egitea, 100 milioi aldiz erori da Proportzio bera aplikatuz, 1998. urtean autoa gasolinaz betetzeko behar zen diruarekin 2011. urtean kotxea gasolinaz bete, eta Jupiterreraino joan-etorria birritan egiteko beste egongo zen.
(Laughter)
(Algarak)
World population, PC placements, the archive of all of medical literature, Moore's law, the old way of sequencing, and here's all the new stuff. Guys, this is a long scale; you don't typically see lines that go up like that. So the worldwide capacity to sequence human genomes is something like 50,000 to 100,000 human genomes this year. We know this based on the machines that are being placed. This is expected to double, triple or maybe quadruple year over year for the foreseeable future. In fact, there's one lab in particular that represents 20 percent of all that capacity: It's called the Beijing Genomics Institute. The Chinese are absolutely winning this race to the new Moon, by the way. What does this mean for medicine?
Mundu-populazioa Ordenadoreen kopurua, literatura medikoaren artxibategi guztiak. Moore-ren legea, sekuentziatzeko antzinako era, eta hemen gauza berri guzti hori. Aizue, hau eskala logaritmikoa da, benetan: zuek ez zaudete prest horrelako lerroak goraka hain zoro ikusteko. Giza-genomak sekuentziatzeko mundu-ahalmena 50.000 eta 100.000 genoma urteko dago gaur egun Eta jakin badakigu makinen erabilpenean oinarrituta dagoela. Eta badirudi bikoiztu, hirukoiztu eta, agian, laukoiztu egingo dela hurrengo urteetan. Egia esanda, laborategi bat badago zeinek ahalmen horren %20a bereganatzen duen. Beijing Genomics Institut izena du. Aizue, txinatarrak Ilargi berri honetarako lasterketa irabazten ari dira. Zer adierazten du honek medikuntza esparruan?
So a woman, age 37, presents with stage 2 estrogen receptor-positive breast cancer. She is treated with surgery, chemotherapy and radiation. She goes home. Two years later, she comes back with stage 3C ovarian cancer, unfortunately; treated again with surgery and chemotherapy. She comes back three years later at age 42 with more ovarian cancer, more chemotherapy. Six months later, she comes back with acute myeloid leukemia. She goes into respiratory failure and dies eight days later.
37 urteko emakume batek Bigarren etapako estrogenoen hartzaileentzako bularreko minbizia jasaten du. Kirurgia, kimioterapia eta erradiazioaren tratamenduak jartzen dizkiote. Etxera doa. Bi urte barru, hirugarren etapako obario-minbiziarekin jo medikuarenera. Tamalez, berriro kirurgia eta kimioterapiaren tratamenduak jartzen dizkiote. Hiru urte beranduago bueltatu, 42 urteekin berriro obario-minbiziarekin, kimioterapia gehiago. Sei hilabete beranduago, leuzemia mieloide akutu batekin jo medikuarenera. Arnas gutxiegitasuna jasaten du eta zortzi egun eta gero, hil egiten da.
So first: the way in which this woman was treated, in as little as 10 years, will look like bloodletting. And it's because of people like my colleague, Rick Wilson, at the Genome Institute at Washington University, who decided to take a look at this woman postmortem. And he took skin cells, healthy skin and cancerous bone marrow, and sequenced the whole genomes of both of them in a couple of weeks, no big deal. Then he compared those two genomes in software, and what he found, among other things, was a deletion -- a 2,000-base deletion across three billion bases in a particular gene called TP53. If you have this deleterious mutation in this gene, you're 90 percent likely to get cancer in your life.
Orduan, emakume horri jarri zizkioten tratamenduak, 10 urte barru, anker eta basatiak irudituko zaizkigu. Hori dela eta, nire kideak, Rick Wilson-ek, Washington Univertsity-ko Genome Institute-aren kideak, erabaki zuen emakume horren autopsia egitea. Eta berak sekuentziatu eta azal osasungarriaren biopsia egin zituen, baita hezur-muineko minbizidunena. Eta bi genoma horiek sekuentziatu zituen 2 astetan, lan erraza. Eta orduan bi genoma horiek konparatu zituen software horri esker, eta gauza batzuk aurkitu zituen, besteak beste, 2.000 baseetako ezabatzea hiru mila milioi baseen artean gen zehatz batean, TP53 deritzona. Norbaitek mutazio gaizto hau badu gen horretan minbizia jasateko %90a izango du bizitza osoan.
So unfortunately, this doesn't help this woman, but it does have severe -- profound, if you will -- implications to her family. I mean, if they have the same mutation, and they get this genetic test and they understand it, then they can get regular screens and can catch cancer early, and potentially live a significantly longer life.
Tamalez, aurkikuntza horrek ez dio emakume horri laguntzen. baina aurkikuntzak oso ondorio sakon batzuk ditu bere familian Hots, haiek mutazio bera badute, eta froga genetikoa egiten badute, ondorioak ulertuta, orduan medikuarenera joango dira maiz, minbizia aurrez aldetik identifikatzeko eta askoz luzaroko bizitza gozatzeko aukera izango dute.
Let me introduce you to the Beery twins, diagnosed with cerebral palsy at the age of two. Their mom is a very brave woman who didn't believe it; the symptoms weren't matching up. And through some heroic efforts and a lot of Internet searching, she was able to convince the medical community that, in fact, they had something else. They had dopa-responsive dystonia. And so they were given L-Dopa, and their symptoms did improve, but they weren't totally asymptomatic. Significant problems remained.
Orain Beery bikiak aurkeztuko dizkizuet. garun-perlesiarekin diagnostikatuta bi urteekin. Euren ama oso emakume ausarta da zeinek sinetsi zuen gaixo horren sintoma medikoak ez zetozela bat eta ahalegin heroiko batzuei esker eta Internet-en bilaketeei esker elkarte medikoa konbentzitu zuen bere bikiek beste gaixo mota desberdin bat jasaten ari zirela esanez. Azkenean, dopamina-ra distonia iraunkorra pairatzen zutela jakin zen L-Dopa agindu ostean, eta euren sintomak hobetu arren ez zuten asintomatikotasun osoa lortu Eta arazo adierazgarriekin geratu ziren
Turns out the gentleman in this picture is a guy named Joe Beery, who was lucky enough to be the CIO of a company called Life Technologies. They're one of two companies that makes these massive whole-genome sequencing tools. And so he got his kids sequenced. What they found was a series of mutations in a gene called SPR, which is responsible for producing serotonin, among other things. So on top of L-Dopa, they gave these kids a serotonin precursor drug, and they're effectively normal now. Guys, this would never have happened without whole-genome sequencing. At the time -- this was a few years ago -- it cost $100,000. Today it's $10,000, next year, $1,000, the year after, $100, give or take a year. That's how fast this is moving.
Argazki horretako gizona Joe Beery da, zein enpresa baten burua zen hain zuzen ere, Life Technologies-ena. Eta enpresa horrek, beste enpresa batekin, garatzen ditu genoma osoa sekuentziateko tresnak. Orduan bere bi bikien genomak sekuentziatu egin zuen Eta mutazio batzuk aurkitu zituen gen batean, SPR deritzona. serotonina ekoizteko gen arduraduna da, besteak beste, Orduan L-Dopa hartzeaz gain, haiek ere serotoninaren aitzindari den droga bat eman zieten. eta orain ondo daude. Aizue, hau ez litzateke inoiz gertatuko genoma osoa sekuentziatuko ez bagenu. Eta garai hartan, orain dela urte batzuk, $100.000 balio zuen. Gaur $10.000. Hurrengo urtean $1.000 Eta bi urte barru $100. Hau da dakarren abiadura
So here's little Nick -- likes Batman and squirt guns. And it turns out Nick shows up at the children's hospital with this distended belly, like a famine victim. And it's not that he's not eating; it's that when he eats, his intestine basically opens up and feces spill out into his gut. So a hundred surgeries later, he looks at his mom and says, "Mom, please pray for me. I'm in so much pain." His pediatrician happens to have a background in clinical genetics and he has no idea what's going on, but he says, "Let's get this kid's genome sequenced." And what they find is a single-point mutation in a gene responsible for controlling programmed cell death. So the theory is that he's having some immunological reaction to what's going on -- to the food, essentially. And that's a natural reaction, which causes some programmed cell death, but the gene that regulates that down is broken. And so this informs, among other things, of course, a treatment for bone marrow transplant, which he undertakes. And after nine months of grueling recovery, he's now eating steak with A1 sauce.
Hemen daukazue Nick txikia Batman eta ur-pistolak gustatzen zaizkio. Eta Nick ospital baten pediatria zerbitzura heltzen da bere urdail handiputzarekin, gosetia izango balitz bezala. Baina jan egiten du, Baina janten duenean, bere hesteak zabaldu egiten dira eta gorozkiak urdailean hedatzen dira. Orduan hamaika kirurgi-ebakuntza egin ondoren, bere amari begiratu eta esan, "Ama, mesedez, nitaz otoitz egin, izugarrizko mina daukat eta" Zorionez, bere pediatrak genetika klinikoan eskarmentua zeukan eta Nick-ri zer gertatzen zitzaion ideiarik ez zeukan arren esan zuen, "Egin dezagun mutil horren genomaren sekuentziazioa" Eta puntu-bakarreko mutazio bat aurkitzen dute gen batean, zeinek zelulen antolatutako heriotza kontrolatzen duen. Orduan, erreakzio inmunologikoaren teoria garatzen du janariaren inguruan hain zuzen ere. eta hori da erreakzio naturala, zeinek zelulen antolatutako heriotza eragin dion. Erreakzio kontrolatzen duen geneak hondatuta daude. Egokiera horren ondorioz, hezur-muineko transplantea egin behar izango diote. Bederatzi hilabetetako berreskuratze handia suertatu ostean kalitate handiko txuletak eta saltsak jaten ditu.
(Laughter)
(Algarak)
The prospect of using the genome as a universal diagnostic is upon us today. Today. It's here. And what it means for all of us is that everybody in this room could live an extra 5, 10, 20 years, just because of this one thing. Which is a fantastic story, unless you think about humanity's footprint on the planet, and our ability to keep up food production. So it turns out that the very same technology is also being used to grow new lines of corn, wheat, soybean and other crops that are highly tolerant of drought, of flood, of pests and pesticides. Now, look -- as long as we continue to increase the population, we'll have to continue to grow and eat genetically modified foods. And that's the only position I'll take today. Unless there's anybody in the audience who'd like to volunteer to stop eating? None, not one.
Genoma erabiltzeko ahalmena diagnosi medikoa egiteko posiblea da gaur egun. Gaur, hemen dago Eta guri esaten digun informazioa da gela honetako guztiak 5, 10 edo 20 urte gehiago bizi ahal izango direla. genomari esker. Bai berri ona, baldin eta planetaren oinatz ekologikoa kontuan hartzen ez baduzue eta gure trebetasuna janari ekoizpena mantentzeko Hau da kontua haiek teknologia bera erabiltzen dute aldaera berriak lantzeko artoa, garia, soja eta beste aldaera batzuk askoz iraunkorragoak direnak, lehorteetara, uholdeetara izurriteetara eta pestizidetara. Baina, munduko populazioak hazten jarraitzen duen bitartean genetikoki modifikatutako jakiak landu eta jan behar izango ditugu eta hau da nik hartutako aukera oraintxe bertan Ba ahal dago publikoan jateari guztiz uzteko prest dagoenik? Inor ere ez, konforme. Hau da idazmakina,
This is a typewriter, a staple of every desktop for decades. And, in fact, the typewriter was essentially deleted by this thing. And then more general versions of word processors came about. But ultimately, it was a disruption on top of a disruption. It was Bob Metcalfe inventing the Ethernet, and the connection of all these computers that fundamentally changed everything. Suddenly we had Netscape, we had Yahoo. And we had, indeed, the entire dot-com bubble.
idazmahai guztietan nahitaezkoa urte askotan zehar Baina, gauza honek idazmakina ezabatu zuen. Eta gero, hitz-prozesadoreen bertsio berriek aurrekoa deuseztatu zuten. Baina azkenean, teknologia disruptiboek haiek ere ezabatu zituzten. Bob Metcalfe-k, Ethernet asmatu zuenari esker eta ekipo guztien loturek dena aldatu zuten goitik behera Eta bat-batean Netscape eta Yahoo geneuzkan eta, tamalez, burbuila teknologikoak (.com)
(Laughter)
(Algarak)
Not to worry though, that was quickly rescued by the iPod, Facebook and, indeed, Angry Birds.
Baina ez kezkatu iPod-ek eta Facebook-ek erreskatatu gintuzten baita Angry Birds-ek ere
(Laughter)
(Algarak)
Look, this is where we are today. This is the genomic revolution today. This is where we are. What I'd like you to consider is: What does it mean when these dots don't represent the individual bases of your genome, but they connect to genomes all across the planet? I just recently had to buy life insurance, and I was required to answer: A. I have never had a genetic test; B. I've had one, here you go; or C. I've had one and I'm not telling. Thankfully, I was able to answer A, and I say that honestly, in case my life insurance agent is listening. But what would have happened if I had said C?
Aizue, hemen gaude gaur egun Hau da gaurko genomaren iraultza. Hemen gaude. Zuek hau kontuan hartzea gustatuko litzaidake Zerk adirazi nahi dute pantailaren puntu horiek ez dituztenean zuen genomaren baseak irudikatzen soilik, mundu osoko genomekin dugun konexioa baizik? Arestian bizitza-asegurua erosi nahi izan nuen. Eta galdera bat erantzun behar izan nuen A. Ez dut inoiz egin test genetiko bat. B. Bat egin dut eta hemen dago. eta C. Bat egin dut baina ez dizut erakutsi nahi. Eskerrak A aukera erantzun nuen. eta zintzo esaten dut, nire aseguru-agenteak entzunez gero Zer gertatuko zitzaidan nik C erantzun banu? Bezeroentzako erabilera genomikoak gora egingo lukete.
Consumer applications for genomics will flourish. Do you want to see if you're genetically compatible with your girlfriend? DNA sequencing on your iPhone? There's an app for that.
Zure emaztegaiarekin genetikoki bateragarri zaren ala ez jakin nahi duzu? Jakina DNA-ren sekuntziazioa zure iPhone-n? Badago erabilera bat prest. (Algarak)
(Laughter)
Personalized genomic massage, anyone? There's already a lab today that tests for allele 334 of the AVPR1 gene, the so-called cheating gene.
Nork nahi du masaje genomiko pertsonalizatua? Badago laborategi batek zeinek frogak egiten dituen AVPR1 genaren 334 aleloa aurkitzeko desleialtasun genea deritzona
(Laughter)
Orduan gaur hemen bere bikotearekin dagoena
So anybody who's here today with your significant other, just turn over to them, swab their mouth, send it to the lab and you'll know for sure.
bakarrik bestearengana hurbildu eta ahoaren lagin bat hartu besterik ez du egin behar bidali laborategira eta ziurtatuko zara. (Algarak)
(Laughter)
Presidente berria aukeratuko zenukete
Do you really want to elect a president whose genome suggests cardiomyopathy? Think of it -- it's 2016, and the leading candidate releases not only her four years of back-tax returns, but also her personal genome. And it looks really good. Then she challenges all her competitors to do the same. Do you think that's not going to happen? Do you think it would have helped John McCain?
bere genomak kardiomiopatia erakutsiko balu? Demagun 2016. urtean gauden eta gogokoen hautagaiak aurkezten du bere 4 urtetako zerga-murrizketaren plana ez ezik baita bere genoma pertsonala ere Oso genoma ona da, benetan Eta bere lehiakideei desafio egiten die gauza bera egin dezaten Zer pentsatzen duzue, hori ez dela inoiz gertatuko? John McCain-i lagundu zion, ba? (Algarak)
(Laughter)
Zenbat jende dago publikoan
How many people in the audience have the last name Resnick, like me? Raise your hand. Anybody? Nobody. Typically, there's one or two. So my father's father was one of 10 Resnick brothers. They all hated each other, and all moved to different parts of the planet. So it's likely I'm related to every Resnick that I ever meet, but I don't know. So imagine if my genome were De-identified, sitting in software, And a third cousin's genome was also sitting there, and there was software that could compare the two and make these associations. Not hard to imagine. My company has software that does this right now. Imagine one more thing, that that software is able to ask both parties for mutual consent: "Would you be willing to meet your third cousin?" And if we both say yes -- voilà! Welcome to Chromosomally LinkedIn.
nire abizen berbera duena, Resnick? Altxatu eskua Norbait? Inor ez. Normalean , badago bat edo bi Nire aitaren aitak 10 Resnick anai zituen Elkarri gorroto egin zioten Eta munduaren leku desberdinetara mugitu ziren. Gerta daitekeena nik ezagutu ditudan Resnick guztien ahaidea naizela, baina ez nago ziur Baina demagun nire genoma software batean balego modu ezezagunean, eta hirugarren lehegusuaren genoma baita han balego ere, eta software bat existituko balitz, bi genoma horiek konparatu ahal izango lituzke eta elkartu. Ez da ezinezkoa. Nire konpainia hori egiten ari da oraintxe bertan Eta demagun beste gauza bat software horrek bi pertsonen onarpena eska dezakeela Zure hirugarren lehengusua ezagutu nahi izango zenuke? Eta biok bai erantzuten badugu, orduan, Ongi etorri Linkedln kromosomatikora.
(Laughter)
(Algarak)
Now this is probably a good thing, right? Bigger clan gatherings and so on. But maybe it's a bad thing as well. How many fathers in the room? Raise your hands. OK, so experts think that one to three percent of you are not actually the father of your child.
Oso gauza ona da, ezta? Familia-bilerak askoz handiagoak izango dira, ezta? Baina, baita gauza okerra ere. Zenbat aita daude hemen? Altxatu eskuak. Ondo, adituek uste dute aita guztien %1etik %3ra ez direla euren seme-alaben aita biologikoak.
(Laughter)
(Algarak)
Look --
Begira --
(Laughter)
(Algarak)
These genomes, these 23 chromosomes, they don't in any way represent the quality of our relationships or the nature of our society -- at least not yet. And like any new technology, it's really in humanity's hands to wield it for the betterment of mankind or not. And so I urge you all to wake up and to tune in and to influence the genomic revolution that's happening all around you.
Genoma hauek, 23 kromosoma hauek ez dute gure erlazioen kalitatea azaltzen ezta gure gizartearen natura ere -- oraindik ez. Eta teknologia berri guztiei gertatzen zien bezala gizakien eskuetan dago gizateriaren hobekuntzarako erabiltzea. Benetan eskatzen dizuet esnatzeko eta eguneratzeko zuen inguruko genomaren iraultzan eragiteko. Mila esker.
Thank you.
(Applause)
(Txaloak)