Richard Resnick: Welcome to the genomic revolution

Translator: Alvaro Moya Reviewer: Jon Goikolea

Jaun-Andreak

Ladies and gentlemen,

I present to you the human genome.

Giza-genoma aurkeztu nahi dizuet

(Applause)

(Txaloak)

Chromosome one -- top left, bottom right -- are the sex chromosomes.

Lehenengo kromosoma, goiko ezkerraldean

Beheko eskuinaldean, sexu-kromosomak daude.

Women have two copies of that big X chromosome;

Emakumeek X kromosoma handi horren bi kopia dituzte

gizonek X-a daukate

men have the X and, of course, that small copy of the Y.

Eta, nola ez, Y kromosomaren kopia txiki hori

Sorry boys, but it's just a tiny little thing that makes you different.

Sentitzen dut, mutilak, baina ezberdin egiten zaituzten bakarra gauza txiki hori da.

So if you zoom in on this genome,

Orduan, genoma hori ikusteko gerturatzen bazara,

then what you see, of course, is this double-helix structure --

ikusi ahal duzuena, nola ez, helize-bikoitzaren egitura da.

the code of life spelled out with these four biochemical letters,

bizi-kodea lau letra biokimiko horiekin idatzita

edo guk aipatzen ditugun bezala, baseak, ondo:

or we call them bases: A, C, G and T.

A, C, G eta T

How many are there in the human genome? Three billion.

Zenbat daude giza-genoman? Hiru mila milioi.

Is that a big number?

Zenbaki handia da, ezta?

Well, everybody can throw around big numbers.

Ondo, edozeinek zenbaki handiak erakuts ditzake

But in fact, if I were to place one base

Baina, egia esanda, nik base bat kokatuko banu

on each pixel of this 1280x800-resolution screen,

bereizmen handiko 1280 x 800-ko pantaila honetako pixel bakoitzean

3000 pantaila beharko genituzke genoma osoa begiratzeko.

we would need 3,000 screens to take a look at the genome.

Hots, nahiko handia da.

So it's really quite big.

And perhaps because of its size,

Eta, agian, tamainaren ondorioz,

a group of people -- all, by the way, with Y chromosomes --

pertsona talde batek -- denak Y kromosomadunak, gainera --

decided they would want to sequence it.

berau sekuentziatzea erabaki zuten.

(Laughter)

(Algarak)

And so 15 years, actually, and about four billion dollars later,

Eta 15 urte pasatu eta lau mila miloi dolar gastatu eta gero

the genome was sequenced and published.

genoma sekuentziatu eta lana argitaratu zuten.

In 2003, the final version was published, and they keep working on it.

2003. urtean, azkenengo bertsioa argitaratu zuten eta oraindik lan egiten jarraitzen dute .

Lan hori hau bezalako makina batean egin zen.

That was all done on a machine like this.

Dolar bat base bakoitzeko --

It costs about a dollar for each base -- a very slow way of doing it.

efikazia gutxiko era.

Well, folks, I'm here to tell you

Ondo adiskideak, orain kontatuko dizuet

that the world has completely changed,

munduak zeharo aldatu da

and none of you know about it.

eta zuetako inor ez da konturatu

So now what we do is take a genome,

Orain genoma hartzen dugu,

we make maybe 50 copies of it,

50 kopia egiten ditugu agian

we cut all those copies up into little 50-base reads,

kopia horiek berrogeita hamar baseko segmentuetan moztu

and then we sequence them, massively parallel.

eta gero sekuentziatu egiten dugu modu paraleloan.

Then we bring that into software and reassemble it,

Eta gero software batera pasatu

eta gero berregin zuei emaitzak emateko.

and tell you what the story is.

Eta horrela lortzen ditugu genomaren itxura ikustea.

So to give you a picture of what this looks like,

the Human Genome Project: 3 gigabases, right?

Hau da, Giza-Genomaren Proiektua: 3 gigabase, ondo.

Makina horietako egite bat:

One run on one of these modern machines: 200 gigabases in a week.

200 gigabase astero.

And that 200 is going to change to 600 this summer,

Eta uda honetan 200-etik 600-era igaroko dugu.

and there's no sign of this pace slowing.

eta badirudi abiadura hori ez dela motelduko.

The price of a base, to sequence a base,

Orduan, base baten prezioa, base bat sekuentzia egitea,

has fallen 100 million times.

100 milioi aldiz erori da

That's the equivalent of you filling up your car with gas in 1998,

Proportzio bera aplikatuz, 1998. urtean autoa gasolinaz betetzeko behar zen diruarekin

2011. urtean kotxea gasolinaz bete,

waiting until 2011,

and now you can drive to Jupiter and back twice.

eta Jupiterreraino joan-etorria birritan egiteko beste egongo zen.

(Laughter)

(Algarak)

World population,

Mundu-populazioa

Ordenadoreen kopurua,

PC placements,

the archive of all of medical literature,

literatura medikoaren artxibategi guztiak.

Moore's law,

Moore-ren legea,

the old way of sequencing,

sekuentziatzeko antzinako era, eta hemen gauza berri guzti hori.

and here's all the new stuff.

Aizue, hau eskala logaritmikoa da, benetan:

Guys, this is a long scale;

you don't typically see lines that go up like that.

zuek ez zaudete prest horrelako lerroak goraka hain zoro ikusteko.

So the worldwide capacity to sequence human genomes

Giza-genomak sekuentziatzeko mundu-ahalmena

50.000 eta 100.000 genoma urteko dago gaur egun

is something like 50,000 to 100,000 human genomes this year.

Eta jakin badakigu makinen erabilpenean oinarrituta dagoela.

We know this based on the machines that are being placed.

Eta badirudi bikoiztu, hirukoiztu eta, agian, laukoiztu egingo dela

This is expected to double, triple or maybe quadruple

year over year for the foreseeable future.

hurrengo urteetan.

In fact, there's one lab in particular

Egia esanda, laborategi bat badago

that represents 20 percent of all that capacity:

zeinek ahalmen horren %20a bereganatzen duen.

It's called the Beijing Genomics Institute.

Beijing Genomics Institut izena du.

The Chinese are absolutely winning this race to the new Moon, by the way.

Aizue, txinatarrak Ilargi berri honetarako lasterketa irabazten ari dira.

What does this mean for medicine?

Zer adierazten du honek medikuntza esparruan?

So a woman, age 37,

37 urteko emakume batek

Bigarren etapako estrogenoen hartzaileentzako bularreko minbizia jasaten du.

presents with stage 2 estrogen receptor-positive breast cancer.

She is treated with surgery, chemotherapy and radiation.

Kirurgia, kimioterapia eta erradiazioaren tratamenduak jartzen dizkiote.

She goes home.

Etxera doa.

Two years later,

Bi urte barru, hirugarren etapako obario-minbiziarekin jo medikuarenera.

she comes back with stage 3C ovarian cancer, unfortunately;

Tamalez, berriro kirurgia eta kimioterapiaren tratamenduak jartzen dizkiote.

treated again with surgery and chemotherapy.

She comes back three years later at age 42

Hiru urte beranduago bueltatu, 42 urteekin

berriro obario-minbiziarekin, kimioterapia gehiago.

with more ovarian cancer, more chemotherapy.

Six months later,

Sei hilabete beranduago,

she comes back with acute myeloid leukemia.

leuzemia mieloide akutu batekin jo medikuarenera.

She goes into respiratory failure and dies eight days later.

Arnas gutxiegitasuna jasaten du eta zortzi egun eta gero, hil egiten da.

So first: the way in which this woman was treated,

Orduan, emakume horri jarri zizkioten tratamenduak, 10 urte barru,

in as little as 10 years, will look like bloodletting.

anker eta basatiak irudituko zaizkigu.

And it's because of people like my colleague, Rick Wilson,

Hori dela eta, nire kideak, Rick Wilson-ek,

Washington Univertsity-ko Genome Institute-aren kideak,

at the Genome Institute at Washington University,

who decided to take a look at this woman postmortem.

erabaki zuen emakume horren autopsia egitea.

Eta berak sekuentziatu eta azal osasungarriaren biopsia egin zituen,

And he took skin cells, healthy skin

and cancerous bone marrow,

baita hezur-muineko minbizidunena.

and sequenced the whole genomes of both of them

Eta bi genoma horiek sekuentziatu zituen

2 astetan, lan erraza.

in a couple of weeks, no big deal.

Then he compared those two genomes in software,

Eta orduan bi genoma horiek konparatu zituen software horri esker,

and what he found, among other things,

eta gauza batzuk aurkitu zituen, besteak beste,

was a deletion -- a 2,000-base deletion across three billion bases

2.000 baseetako ezabatzea

hiru mila milioi baseen artean

in a particular gene called TP53.

gen zehatz batean, TP53 deritzona.

Norbaitek mutazio gaizto hau badu gen horretan

If you have this deleterious mutation in this gene,

you're 90 percent likely to get cancer in your life.

minbizia jasateko %90a izango du bizitza osoan.

So unfortunately, this doesn't help this woman,

Tamalez, aurkikuntza horrek ez dio emakume horri laguntzen.

but it does have severe -- profound, if you will --

baina aurkikuntzak oso ondorio sakon batzuk ditu

implications to her family.

bere familian

Hots, haiek mutazio bera badute,

I mean, if they have the same mutation,

and they get this genetic test and they understand it,

eta froga genetikoa egiten badute, ondorioak ulertuta,

then they can get regular screens and can catch cancer early,

orduan medikuarenera joango dira maiz, minbizia aurrez aldetik identifikatzeko

and potentially live a significantly longer life.

eta askoz luzaroko bizitza gozatzeko aukera izango dute.

Let me introduce you to the Beery twins,

Orain Beery bikiak aurkeztuko dizkizuet.

diagnosed with cerebral palsy at the age of two.

garun-perlesiarekin diagnostikatuta bi urteekin.

Euren ama oso emakume ausarta da

Their mom is a very brave woman who didn't believe it;

zeinek sinetsi zuen gaixo horren sintoma medikoak ez zetozela bat

the symptoms weren't matching up.

eta ahalegin heroiko batzuei esker eta Internet-en bilaketeei esker

And through some heroic efforts and a lot of Internet searching,

elkarte medikoa konbentzitu zuen

she was able to convince the medical community

bere bikiek beste gaixo mota desberdin bat jasaten ari zirela esanez.

that, in fact, they had something else.

Azkenean, dopamina-ra distonia iraunkorra pairatzen zutela jakin zen

They had dopa-responsive dystonia.

And so they were given L-Dopa,

L-Dopa agindu ostean,

and their symptoms did improve,

eta euren sintomak hobetu arren

but they weren't totally asymptomatic.

ez zuten asintomatikotasun osoa lortu

Significant problems remained.

Eta arazo adierazgarriekin geratu ziren

Turns out the gentleman in this picture is a guy named Joe Beery,

Argazki horretako gizona Joe Beery da,

zein enpresa baten burua zen

who was lucky enough to be the CIO

hain zuzen ere, Life Technologies-ena.

of a company called Life Technologies.

Eta enpresa horrek, beste enpresa batekin,

They're one of two companies

that makes these massive whole-genome sequencing tools.

garatzen ditu genoma osoa sekuentziateko tresnak.

And so he got his kids sequenced.

Orduan bere bi bikien genomak sekuentziatu egin zuen

What they found was a series of mutations in a gene called SPR,

Eta mutazio batzuk aurkitu zituen gen batean, SPR deritzona.

serotonina ekoizteko gen arduraduna da, besteak beste,

which is responsible for producing serotonin, among other things.

So on top of L-Dopa, they gave these kids a serotonin precursor drug,

Orduan L-Dopa hartzeaz gain, haiek ere serotoninaren aitzindari den droga bat eman zieten.

and they're effectively normal now.

eta orain ondo daude.

Guys, this would never have happened without whole-genome sequencing.

Aizue, hau ez litzateke inoiz gertatuko genoma osoa sekuentziatuko ez bagenu.

Eta garai hartan, orain dela urte batzuk, $100.000 balio zuen.

At the time -- this was a few years ago -- it cost $100,000.

Gaur $10.000. Hurrengo urtean $1.000

Today it's $10,000, next year, $1,000,

Eta bi urte barru $100.

the year after, $100, give or take a year.

Hau da dakarren abiadura

That's how fast this is moving.

Hemen daukazue Nick txikia

So here's little Nick --

Batman eta ur-pistolak gustatzen zaizkio.

likes Batman and squirt guns.

And it turns out Nick shows up at the children's hospital

Eta Nick ospital baten pediatria zerbitzura heltzen da

with this distended belly, like a famine victim.

bere urdail handiputzarekin, gosetia izango balitz bezala.

And it's not that he's not eating; it's that when he eats,

Baina jan egiten du,

Baina janten duenean, bere hesteak zabaldu egiten dira

his intestine basically opens up and feces spill out into his gut.

eta gorozkiak urdailean hedatzen dira.

Orduan hamaika kirurgi-ebakuntza egin ondoren,

So a hundred surgeries later,

he looks at his mom and says, "Mom, please pray for me.

bere amari begiratu eta esan, "Ama,

mesedez, nitaz otoitz egin, izugarrizko mina daukat eta"

I'm in so much pain."

His pediatrician happens to have a background in clinical genetics

Zorionez, bere pediatrak genetika klinikoan eskarmentua zeukan

and he has no idea what's going on,

eta Nick-ri zer gertatzen zitzaion ideiarik ez zeukan arren

but he says, "Let's get this kid's genome sequenced."

esan zuen, "Egin dezagun mutil horren genomaren sekuentziazioa"

And what they find is a single-point mutation

Eta puntu-bakarreko mutazio bat aurkitzen dute

in a gene responsible for controlling programmed cell death.

gen batean, zeinek zelulen antolatutako heriotza kontrolatzen duen.

So the theory is that he's having some immunological reaction

Orduan, erreakzio inmunologikoaren teoria garatzen du

to what's going on -- to the food, essentially.

janariaren inguruan hain zuzen ere.

And that's a natural reaction, which causes some programmed cell death,

eta hori da erreakzio naturala, zeinek zelulen antolatutako heriotza eragin dion.

but the gene that regulates that down is broken.

Erreakzio kontrolatzen duen geneak hondatuta daude.

Egokiera horren ondorioz,

And so this informs, among other things, of course,

hezur-muineko transplantea egin behar izango diote.

a treatment for bone marrow transplant, which he undertakes.

Bederatzi hilabetetako berreskuratze handia suertatu ostean

And after nine months of grueling recovery,

kalitate handiko txuletak eta saltsak jaten ditu.

he's now eating steak with A1 sauce.

(Algarak)

(Laughter)

The prospect of using the genome as a universal diagnostic

Genoma erabiltzeko ahalmena

diagnosi medikoa egiteko

is upon us today.

posiblea da gaur egun.

Gaur, hemen dago

Today. It's here.

Eta guri esaten digun informazioa da

And what it means for all of us

is that everybody in this room could live an extra 5, 10, 20 years,

gela honetako guztiak 5, 10 edo 20 urte gehiago bizi ahal izango direla.

just because of this one thing.

genomari esker.

Which is a fantastic story,

Bai berri ona,

unless you think about humanity's footprint on the planet,

baldin eta planetaren oinatz ekologikoa kontuan hartzen ez baduzue

and our ability to keep up food production.

eta gure trebetasuna janari ekoizpena mantentzeko

Hau da kontua

So it turns out

that the very same technology is also being used to grow new lines

haiek teknologia bera

erabiltzen dute aldaera berriak lantzeko

of corn, wheat, soybean and other crops

artoa, garia, soja eta beste aldaera batzuk

that are highly tolerant of drought, of flood,

askoz iraunkorragoak direnak, lehorteetara, uholdeetara

of pests and pesticides.

izurriteetara eta pestizidetara.

Now, look --

Baina, munduko populazioak hazten jarraitzen duen bitartean

as long as we continue to increase the population,

genetikoki modifikatutako jakiak landu eta jan behar izango ditugu

we'll have to continue to grow and eat genetically modified foods.

eta hau da nik hartutako aukera oraintxe bertan

And that's the only position I'll take today.

Unless there's anybody in the audience

Ba ahal dago publikoan

who'd like to volunteer to stop eating?

jateari guztiz uzteko prest dagoenik?

Inor ere ez, konforme.

None, not one.

This is a typewriter,

Hau da idazmakina,

a staple of every desktop for decades.

idazmahai guztietan nahitaezkoa urte askotan zehar

And, in fact, the typewriter was essentially deleted by this thing.

Baina, gauza honek idazmakina ezabatu zuen.

And then more general versions of word processors came about.

Eta gero, hitz-prozesadoreen bertsio berriek aurrekoa deuseztatu zuten.

But ultimately, it was a disruption on top of a disruption.

Baina azkenean, teknologia disruptiboek haiek ere ezabatu zituzten.

It was Bob Metcalfe inventing the Ethernet,

Bob Metcalfe-k, Ethernet asmatu zuenari esker

and the connection of all these computers

eta ekipo guztien loturek

that fundamentally changed everything.

dena aldatu zuten goitik behera

Suddenly we had Netscape, we had Yahoo.

Eta bat-batean Netscape eta Yahoo geneuzkan

And we had, indeed, the entire dot-com bubble.

eta, tamalez, burbuila teknologikoak (.com)

(Laughter)

(Algarak)

Not to worry though,

Baina ez kezkatu

that was quickly rescued by the iPod, Facebook

iPod-ek eta Facebook-ek erreskatatu gintuzten

and, indeed, Angry Birds.

baita Angry Birds-ek ere

(Laughter)

(Algarak)

Aizue, hemen gaude gaur egun

Look, this is where we are today.

This is the genomic revolution today. This is where we are.

Hau da gaurko genomaren iraultza. Hemen gaude.

Zuek hau kontuan hartzea gustatuko litzaidake

What I'd like you to consider is:

Zerk adirazi nahi dute

What does it mean

when these dots don't represent the individual bases of your genome,

pantailaren puntu horiek ez dituztenean zuen genomaren baseak irudikatzen soilik,

but they connect to genomes all across the planet?

mundu osoko genomekin dugun konexioa baizik?

I just recently had to buy life insurance, and I was required to answer:

Arestian bizitza-asegurua erosi nahi izan nuen.

Eta galdera bat erantzun behar izan nuen

A. I have never had a genetic test;

A. Ez dut inoiz egin test genetiko bat. B. Bat egin dut eta hemen dago.

B. I've had one, here you go;

eta C. Bat egin dut baina ez dizut erakutsi nahi.

or C. I've had one and I'm not telling.

Eskerrak A aukera erantzun nuen.

Thankfully, I was able to answer A,

and I say that honestly, in case my life insurance agent is listening.

eta zintzo esaten dut, nire aseguru-agenteak entzunez gero

Zer gertatuko zitzaidan nik C erantzun banu?

But what would have happened if I had said C?

Consumer applications for genomics will flourish.

Bezeroentzako erabilera genomikoak gora egingo lukete.

Zure emaztegaiarekin genetikoki bateragarri zaren ala ez

Do you want to see if you're genetically compatible

jakin nahi duzu? Jakina

with your girlfriend?

DNA sequencing on your iPhone? There's an app for that.

DNA-ren sekuntziazioa zure iPhone-n? Badago erabilera bat prest.

(Laughter)

(Algarak)

Personalized genomic massage, anyone?

Nork nahi du masaje genomiko pertsonalizatua?

Badago laborategi batek

There's already a lab today that tests for allele 334 of the AVPR1 gene,

zeinek frogak egiten dituen AVPR1 genaren 334 aleloa aurkitzeko

desleialtasun genea deritzona

the so-called cheating gene.

Orduan gaur hemen bere bikotearekin dagoena

(Laughter)

So anybody who's here today with your significant other,

bakarrik bestearengana hurbildu eta ahoaren lagin bat hartu besterik ez du egin behar

just turn over to them, swab their mouth, send it to the lab

bidali laborategira eta ziurtatuko zara.

and you'll know for sure.

(Algarak)

(Laughter)

Presidente berria aukeratuko zenukete

Do you really want to elect a president

bere genomak kardiomiopatia erakutsiko balu?

whose genome suggests cardiomyopathy?

Demagun 2016. urtean gauden

Think of it -- it's 2016,

eta gogokoen hautagaiak aurkezten du

and the leading candidate releases

bere 4 urtetako zerga-murrizketaren plana ez ezik

not only her four years of back-tax returns,

baita bere genoma pertsonala ere

but also her personal genome.

Oso genoma ona da, benetan

And it looks really good.

Then she challenges all her competitors to do the same.

Eta bere lehiakideei desafio egiten die gauza bera egin dezaten

Zer pentsatzen duzue, hori ez dela inoiz gertatuko?

Do you think that's not going to happen?

John McCain-i lagundu zion, ba?

Do you think it would have helped John McCain?

(Algarak)

(Laughter)

Zenbat jende dago publikoan

How many people in the audience have the last name Resnick, like me?

nire abizen berbera duena, Resnick? Altxatu eskua

Raise your hand.

Norbait? Inor ez.

Anybody? Nobody.

Normalean , badago bat edo bi

Typically, there's one or two.

So my father's father was one of 10 Resnick brothers.

Nire aitaren aitak 10 Resnick anai zituen

Elkarri gorroto egin zioten

They all hated each other, and all moved to different parts of the planet.

Eta munduaren leku desberdinetara mugitu ziren.

Gerta daitekeena

So it's likely I'm related to every Resnick that I ever meet,

nik ezagutu ditudan Resnick guztien ahaidea naizela, baina ez nago ziur

but I don't know.

So imagine if my genome were De-identified, sitting in software,

Baina demagun nire genoma software batean balego modu ezezagunean,

And a third cousin's genome was also sitting there,

eta hirugarren lehegusuaren genoma baita han balego ere,

eta software bat existituko balitz, bi genoma horiek konparatu ahal izango lituzke

and there was software that could compare the two

eta elkartu.

and make these associations.

Not hard to imagine. My company has software that does this right now.

Ez da ezinezkoa. Nire konpainia hori egiten ari da oraintxe bertan

Eta demagun beste gauza bat

Imagine one more thing,

that that software is able to ask both parties for mutual consent:

software horrek bi pertsonen onarpena eska dezakeela

"Would you be willing to meet your third cousin?"

Zure hirugarren lehengusua ezagutu nahi izango zenuke?

Eta biok bai erantzuten badugu,

And if we both say yes -- voilà!

Welcome to Chromosomally LinkedIn.

orduan, Ongi etorri Linkedln kromosomatikora.

(Laughter)

(Algarak)

Now this is probably a good thing, right?

Oso gauza ona da, ezta?

Bigger clan gatherings and so on.

Familia-bilerak askoz handiagoak izango dira, ezta?

But maybe it's a bad thing as well.

Baina, baita gauza okerra ere.

How many fathers in the room? Raise your hands.

Zenbat aita daude hemen? Altxatu eskuak.

OK, so experts think that one to three percent of you

Ondo, adituek uste dute aita guztien %1etik %3ra

are not actually the father of your child.

ez direla euren seme-alaben aita biologikoak.

(Laughter)

(Algarak)

Look --

Begira --

(Laughter)

(Algarak)

These genomes, these 23 chromosomes,

Genoma hauek, 23 kromosoma hauek

they don't in any way represent the quality of our relationships

ez dute gure erlazioen kalitatea azaltzen

or the nature of our society -- at least not yet.

ezta gure gizartearen natura ere -- oraindik ez.

Eta teknologia berri guztiei gertatzen zien bezala

And like any new technology,

gizakien eskuetan dago

it's really in humanity's hands

to wield it for the betterment of mankind

gizateriaren hobekuntzarako erabiltzea.

or not.

Benetan eskatzen dizuet esnatzeko eta eguneratzeko

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.

zuen inguruko genomaren iraultzan eragiteko.

Mila esker.

Thank you.

(Applause)

(Txaloak)