Richard Resnick: Welcome to the genomic revolution

Prevodilac: Jelena Nedjic Lektor: Mateja Nenadovic

Ladies and gentlemen,

Dame i gospodo,

I present to you the human genome.

ovo pred vama je ljudski genom.

(Applause)

(Aplauz)

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

Hromozom jedan, u gornjem levom i donjem desnom uglu,

to su polni hromozomi.

Women have two copies of that big X chromosome;

Žene imaju dve kopije ovog velikog X hromozoma

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

muškarci imaju jedan X i, naravno, malu kopiju hromozoma Y.

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

Izvinite momci, ali samo ova jedna mala stvar vas čini drugačijim.

So if you zoom in on this genome,

Ukoliko zumirate u genom,

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

ono što ćete videti, naravno, je ova struktura duplog heliksa -

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

kod života koji je ispisan uz pomoć četiri biohemijska slova,

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

ili kako ih mi zovemo baza:

A, C, G i T.

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

Koliko ovih baza ima u ljudskom genomu? Tri milijarde.

Is that a big number?

Da li je to veliki broj?

Well, everybody can throw around big numbers.

Pa, svako može da se razmeće velikim brojevima.

But in fact, if I were to place one base

Činjenica je da ukoliko bih postavio jednu bazu

on each pixel of this 1280x800-resolution screen,

na svaki piksel ovog ekrana rezolucije 1280 puta 800,

trebalo bi nam 3000 ekrana kako bismo sagledali genom.

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

So it's really quite big.

Dakle zaista je veliki.

And perhaps because of its size,

I možda baš zbog njegove veličine,

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

grupa ljudi - koja uzgred budi rečeno ima Y hromozom -

decided they would want to sequence it.

je odlučila da želi da sekvencira genom.

(Laughter)

(Smeh)

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

Tako da je nakon 15 godina i oko 4 milijarde dolara kasnije,

the genome was sequenced and published.

genom sekvenciran i javno objavljen.

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

Prva verzija genoma je objavljena 2003. godine i na njoj se i dalje se radi.

That was all done on a machine like this.

Sve je to urađeno na mašini koja izgleda ovako.

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

Košta otprilike dolar po sekvenciranoj bazi -

Well, folks, I'm here to tell you

veoma spor način za završavanje ovog posla.

that the world has completely changed,

Pa narode, ovde sam kako bih vam saopštio

and none of you know about it.

da se svet potpuno promenio,

a niko od vas ne zna za to.

So now what we do is take a genome,

Ono što mi sada radimo jeste da uzmemo genom,

we make maybe 50 copies of it,

napravimo otprilike 50 kopija istog,

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

isečemo sve te kopije na deliće od 50 baznih parova,

and then we sequence them, massively parallel.

i onda ih sekvenciramo masivnim paralelnim reakcijama.

Then we bring that into software and reassemble it,

A onda podatke prebacimo u softver

and tell you what the story is.

i sastavimo ceo genom i ispričamo vam njegovu priču.

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

Sve sa namerom da vam dam to dočaramo,

the Human Genome Project: 3 gigabases, right?

vidite ovde Projekat Humani Genom od 3 gigabaza.

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

A na ovim mašinama jedna reakcija

čita 200 gigabaza nedeljno.

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

A tih 200 će se promeniti u 600 ovog leta

and there's no sign of this pace slowing.

i ne postoji nijedan znak koji ukazuje da će se ovaj trend usporiti.

The price of a base, to sequence a base,

Cena sekvenciranja jedne baze

has fallen 100 million times.

je pala 100 miliona puta.

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

To je isto kao da napunite rezervoar kola 1998.

waiting until 2011,

sačekate do 2011.

and now you can drive to Jupiter and back twice.

i onda možete da se odvezete do Jupitera i nazad dva puta.

(Laughter)

(Smeh)

World population,

Svetska populacija,

rasprostranjenost ličnih računara,

PC placements,

the archive of all of medical literature,

arhive sve medicinske literature,

Moore's law,

Murov zakon,

the old way of sequencing,

stari način sekvenciranja, i ovde su prikazana nova otkrića.

and here's all the new stuff.

Guys, this is a long scale;

Ljudi, ovo je logaritamska skala,

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

i uobičajeno ne vidimo na njoj trend koji ide tako strmo na gore.

So the worldwide capacity to sequence human genomes

Tako da je svetski kapacitet za sekvenciranje ljudskih genoma

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

otprilike od 50.000 do 100.000 ljudskih genoma godišnje.

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

Mi imamo tu informaciju na osnovu mašina koje su u upotrebi.

This is expected to double, triple or maybe quadruple

Očekujemo da će se broj udvostručiti, utrostručiti ili možda učetvorostručiti

year over year for the foreseeable future.

In fact, there's one lab in particular

iz godine u godinu u bliskoj budućnosti.

that represents 20 percent of all that capacity:

U stvari, postoji jedna laboratorija

koja sama ima 20% tog kapaciteta.

It's called the Beijing Genomics Institute.

Zove se Pekinški institut za genom.

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

Kinezi apsolutno pobeđuju u ovoj trci za novi Mesec, uzgred budi rečeno.

What does this mean for medicine?

Šta ovo znači u svetu medicine?

So a woman, age 37,

Žena ima 37 godina.

Pokazuje simptome raka dojke drugog stepena koji je pozitivan

presents with stage 2 estrogen receptor-positive breast cancer.

za receptor estrogena.

She is treated with surgery, chemotherapy and radiation.

Tretman: operacija, hemoterapija i zračenje.

She goes home.

Ona odlazi kuci.

Two years later,

Dve godine kasnije, vraća se u bolnicu sa rakom jajnika trećeg stepena.

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

Nažalost, terapija su ponovo operacija i hemoterapija.

treated again with surgery and chemotherapy.

She comes back three years later at age 42

Vraća se ponovo tri godine kasnije u svojoj 42. godini

with more ovarian cancer, more chemotherapy.

i ima opet rak jajnika, još hemoterapije.

Six months later,

Šest meseci kasnije,

she comes back with acute myeloid leukemia.

vraća se obolela od akutne mijeloidne leukemije.

She goes into respiratory failure and dies eight days later.

Razvija kolaps disajnih organa i umire 8 dana nakon toga.

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

Prvo, način na koji je ova žena lečena, za samo 10 godina od sada,

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

će izgledati kao krvoproliće.

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

A to je zahvaljujući ljudima kao što je moj kolega, Rik Vilson,

at the Genome Institute at Washington University,

koji radi na Institutu za Genom Univerziteta u Vašingtonu,

who decided to take a look at this woman postmortem.

i koji je odlučio da analizira ovu ženu nakon smrti.

And he took skin cells, healthy skin

On je sekvencirao, uzeo je uzorak ćelija kože, zdrave kože,

and cancerous bone marrow,

i koštane srži žene obolele od raka

and sequenced the whole genomes of both of them

i sekvencirao je potpuni genom oba uzorka

in a couple of weeks, no big deal.

u periodu od dve nedelje, to nije velika stvar.

Then he compared those two genomes in software,

A potom je uporedio ova dva genoma uz pomoć softvera,

and what he found, among other things,

i ono što je između ostalog pronašao

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

je suzbijanje dugo 2000 baznih parova

između tri milijarde baznih parova

in a particular gene called TP53.

u tačno određenom genu koji se zove TP53.

If you have this deleterious mutation in this gene,

Ukoliko imate ovako štetnu mutaciju u tom genu,

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

imate 90 odsto šanse da obolite od raka u svom životu.

So unfortunately, this doesn't help this woman,

Nažalost, to nije pomoglo ovoj ženi,

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

ali ima veoma ozbiljne, veoma značajne

implications to her family.

posledice za njenu porodicu.

I mean, if they have the same mutation,

Mislim, ukoliko oni imaju istu mutaciju

and they get this genetic test and they understand it,

i urade ovaj genetički test, i razumeju ga,

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

onda mogu redovno odlaziti na preglede, i mogu ustanoviti rak u ranom stadijumu

and potentially live a significantly longer life.

i potencijalno mogu živeti znatno dužim životom.

Let me introduce you to the Beery twins,

Upoznajte Biri blizance,

diagnosed with cerebral palsy at the age of two.

kojima je dijagnostikovana cerebralna paraliza

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

kada su imali dve godine.

Njihova majka je veoma hrabra žena

the symptoms weren't matching up.

koja nije verovala u to, simptomi se nisu podudarali,

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

i nakon herojske borbe i mnogo istraživanja na internetu,

she was able to convince the medical community

uspela je da ubedi doktore da njena deca boluju od druge bolesti.

that, in fact, they had something else.

They had dopa-responsive dystonia.

Bolovali su od distonije mišića osetljive na dopamin.

And so they were given L-Dopa,

Tako da im je dat L-Dopamin,

and their symptoms did improve,

i njihovi simptomi se se poboljšali,

but they weren't totally asymptomatic.

ali nisu svi simptomi bolesti nestali.

Significant problems remained.

Značajni problemi su ipak ostali.

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

Ispostavilo se da je gospodin na ovoj fotografiji, Džo Biri,

who was lucky enough to be the CIO

imao sreće da bude Direktor informacija

of a company called Life Technologies.

kompanije koja se zove "Žvotne tehnologije".

They're one of two companies

To je jedna od dve kompanije

that makes these massive whole-genome sequencing tools.

koja proizvodi mašine za masivno sekvenciranje celih genoma.

And so he got his kids sequenced.

Rešio je da sekvencira genom svoje dece.

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

I pronašli su čitav niz mutacija u genu koji zovemo SPR,

koji, između ostalog, diktira proizvodnju serotonina.

which is responsible for producing serotonin, among other things.

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

Tako da su deca pored L-Dopamina dobila i lek koji je prethodnik serotonina

and they're effectively normal now.

i oni su potpuno zdravi sada.

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

Ljudi, ovo se nikada ne bi desilo da nije bilo sekvenciranja celog genoma.

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

I tada, pre nekoliko godina, je to koštalo 100,000$.

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

Danas košta 10,000$. Sledeće godine 1,000$.

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

Godinu nakon sledeće koštaće 100 $, plus minus koja godina.

That's how fast this is moving.

To je brzina kojom se sve ovo pokreće.

So here's little Nick --

Ovo je mali Nik,

likes Batman and squirt guns.

voli Betmena i vodene pištolje.

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

Ispostavilo se da je Nik došao u dečju bolnicu

with this distended belly, like a famine victim.

sa nadutim stomakom kao kod žrtava gladovanja.

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

I nije da on ne jede,

već je stvar u tome da kada jede, njegova creva se bukvalno otvore

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

i izmet se izlije u njegov stomak.

So a hundred surgeries later,

Tako da, stotinu operacija kasnije

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

on pogleda u svoju majku i kaže joj: "Mama, molim te moli se za mene.

I'm in so much pain."

Toliko me sve boli."

His pediatrician happens to have a background in clinical genetics

Njegov pedijatar je igrom slučaja znao dosta o kliničkoj genetici

and he has no idea what's going on,

i nije imao predstavu šta se dešava sa dečakom,

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

ali on reče: "Hajde da sekvenciramo genom ovog deteta."

And what they find is a single-point mutation

I pronašli su mutaciju u jednoj bazi

in a gene responsible for controlling programmed cell death.

u genu koji kontroliše programiranu ćelijsku smrt.

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

Tako da su došli do teorije da dete razvija neku imunološku reakciju

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

na ono što se dešava - na hranu u principu,

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

a to je prirodna reakcija, koja uzrukuje programiranu ćelijsku smrt.

but the gene that regulates that down is broken.

Ali gen koji reguliše taj proces nije funkcionalan.

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

To znači da je, između ostalog naravno,

a treatment for bone marrow transplant, which he undertakes.

neophodno uraditi transplantaciju koštane srži, što se i desilo.

And after nine months of grueling recovery,

Nakon devet meseci napornog oporavka,

he's now eating steak with A1 sauce.

dete sada jede šnicle sa sosom.

(Laughter)

(Smeh)

The prospect of using the genome as a universal diagnostic

Mogućnost korišćenja genoma

kao opšteg dijagnostičkog sredstva

is upon us today.

je tu pred nama danas.

Today. It's here.

Danas, tu je, sada.

I ono što to znači za sve nas

And what it means for all of us

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

jeste da svako ovde prisutan može živeti dodatnih 5, 10, 20 godina

just because of this one thing.

samo zahvaljujući sekvenciranju genoma.

Which is a fantastic story,

To je fantastična priča,

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

osim ukoliko porazmislite o uticaju čovečanstva na planetu

and our ability to keep up food production.

i našim mogućnostima da proizvedemo dovoljno hrane.

Ispostavilo se da se ista ta tehnologija

So it turns out

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

koristi takođe za proizovdnju novih sorti

of corn, wheat, soybean and other crops

kukuruza, žita, soje i drugih žitarica

that are highly tolerant of drought, of flood,

koje su veoma otporne na sušu, poplave,

of pests and pesticides.

na štetočine i pesticide.

Now, look --

Sve dok mi nastavljamo da povećavamo svetsku populaciju,

as long as we continue to increase the population,

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

moraćemo i da nastavimo da gajimo i jedemo genetički modifikovanu hranu,

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

i to je jedini stav koji ću danas izložiti.

Unless there's anybody in the audience

Osim ukoliko ima nekoga u publici

who'd like to volunteer to stop eating?

ko bi želeo da volontira da prestane da jede?

Niko, baš niko.

None, not one.

This is a typewriter,

Ovo je pisaća mašina,

a staple of every desktop for decades.

bila je obeležje svakog radnog stola decenijama.

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

A činjenica je da je pisaću mašinu zamenila ova naprava.

And then more general versions of word processors came about.

A potom su se pojavile već opšte verzije procesora reči.

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

Na kraju, ono što je dovelo do promena nad svim promenama

It was Bob Metcalfe inventing the Ethernet,

je Bob Metkalf koji je izumeo Eternet

and the connection of all these computers

i način povezivanja svih tih kompjutera

that fundamentally changed everything.

što je suštinski promenilo sve.

Suddenly we had Netscape, we had Yahoo.

I odjednom smo dobili "Netscape" i "Yahoo"

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

i dobili smo, u principu, celu "dotcom" propast.

(Laughter)

(Smeh)

Not to worry though,

Ali bez ikakvih briga,

that was quickly rescued by the iPod, Facebook

sve to je dovoljno brzo zamenjeno Ajpodima, Fejsbukom

and, indeed, Angry Birds.

i, svakako, ljutim pticama.

(Laughter)

(Smeh)

Look, this is where we are today.

Shvatite, ovo je mesto gde se mi nalazimo danas.

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

Ovo je genomska revolucija danas. Baš tu se nalazimo.

What I'd like you to consider is:

Tako da bih ja voleo da obratite pažnju na ovo:

What does it mean

šta bi značilo ukoliko ove tačke

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

ne predstavljaju pojedinačne baze vašeg genoma,

but they connect to genomes all across the planet?

već povezuju genome na celoj planeti?

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

Ja sam nedavno morao da kupim životno osiguranje.

I zahtevano je od mene da odgovorim na pitanja:

A. I have never had a genetic test;

A. Nikada nisam radio genetički test; B. Radio sam ga, evo izvolite rezultate;

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

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

C. Radio sam test, ali neću vam reći rezultat.

Thankfully, I was able to answer A,

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

Na sreću, mogao sam da odgovorim pod A, i zaista sam iskren,

za slučaj da me agent životnog osiguranja sluša.

But what would have happened if I had said C?

Ali šta bi se desilo da sam odgovorio opcijom C?

Consumer applications for genomics will flourish.

Korisničke primene genomike će procvetati.

Do you want to see if you're genetically compatible

Želite da saznate da li ste genetički kompatibilni sa svojom devojkom?

with your girlfriend?

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

Naravno.

Sekvenciranje DNK na telefonu? Postoji aplikacija za to.

(Laughter)

Personalized genomic massage, anyone?

(Smeh)

Lična genetička masaža?

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

Danas već postoji laboratorija u kojoj se radi

test za prisustvo alela 334 gena AVPR1,

the so-called cheating gene.

poznatog i kao gen varanja.

(Laughter)

Tako da ko god je ovde danas sa svojim partnerom,

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

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

samo uzmite bris iz njihovih usta

i pošaljite to laboratoriji na analizu i znaćete zasigurno.

and you'll know for sure.

(Laughter)

(Smeh)

Do you really want to elect a president

Da li zaista želite da izaberete predsednika

whose genome suggests cardiomyopathy?

čiji genom sugeriše da će razviti kardiomiopatiju?

Think of it -- it's 2016,

Sada zamislite da je 2016. godina

and the leading candidate releases

i vodeći kandidat obelodanjuje

not only her four years of back-tax returns,

ne samo svoj izveštaj о porezima za poslednje 4 godine,

but also her personal genome.

već i svoj lični genom.

And it looks really good.

Then she challenges all her competitors to do the same.

I izgleda veoma dobro.

A potom poziva sve svoje suparnike da urade isto.

Do you think that's not going to happen?

Da li mislite da se to neće desiti?

Do you think it would have helped John McCain?

Da li mislite da je to moglo da pomogne Džonu Mekejnu?

(Laughter)

(Smeh)

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

Koliko ljudi u publici se preziva Reznik kao ja?

Raise your hand.

Podignite svoje ruke.

Anybody? Nobody.

Bilo ko? Niko.

Typically, there's one or two.

Obično bude jedno ili dvoje ljudi.

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

Moj deda je bio jedan od desetorice braće Reznik.

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

Oni se međusobno nisu podnosili i raselili su se širom planete.

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

Tako da postoji mogućnost da sam u srodstvu

sa svakim Reznikom kojeg upoznam, ali to ne znam.

but I don't know.

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

Zamislite sada da je moj genom dekodiran, i da se nalazi u nekom softveru,

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

i da je tu i genom mog daljeg rođaka

and there was software that could compare the two

i postoji softver koji može da uporedi ta ova genoma i uspostavi takve veze.

and make these associations.

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

To nije teško zamisliti.

Moja firma ima softver koji već radi upravo to.

Imagine one more thing,

I zamislite još jednu stvar,

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

da je taj softver u stanju da upita obe strane za uzajamnu saglasnost,

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

"Da li želite da upoznate svog daljeg rođaka?"

And if we both say yes -- voilà!

Welcome to Chromosomally LinkedIn.

I ukoliko obojica kažemo da, juhu!

Dobrodošli na hromozomski "LinkedIn".

(Laughter)

(Smeh)

Now this is probably a good thing, right?

To je verovatno i dobra stvar, zar ne?

Bigger clan gatherings and so on.

Dolazi do okupljanja većeg klana i tako dalje.

But maybe it's a bad thing as well.

Ali možda je to i loša stvar.

How many fathers in the room? Raise your hands.

Koliko ima očeva ovde? Podignite svoje ruke.

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

U redu, stručnjaci misle da 1 do 3 odsto očeva

are not actually the father of your child.

u stvari nisu očevi svoje dece.

(Laughter)

(Smeh)

Look --

Pogledajte.

(Laughter)

(Smeh)

These genomes, these 23 chromosomes,

Ovi genomi, ovih 23 hromozoma,

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

ne predstavljaju ni na koji način kvalitet naših odnosa

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

ili prirodu našeg društva, barem još uvek ne čine to.

And like any new technology,

I kao svaka druga nova tehnologija,

it's really in humanity's hands

zaista je u rukama čovečanstva

to wield it for the betterment of mankind

da njome upravlja u smeru njegovog poboljšanja ili pogoršanja.

or not.

And so I urge you all to wake up and to tune in

Tako da vas ja podstičem da se probudite i uključite

and to influence the genomic revolution that's happening all around you.

i utičete na genomsku revoluciju koja se dešava svuda oko vas.

Thank you.

Hvala vam.

(Applause)

(Aplauz)