How to read the genome and build a human being | Riccardo Sabatini

Prevodilac: Milenka Okuka Lektor: Mile Živković

For the next 16 minutes, I'm going to take you on a journey

U narednih 16 minuta ću da vas povedem na putovanje

that is probably the biggest dream of humanity:

koje je verovatno najveći san čovečanstva:

to understand the code of life.

razumevanje životnog koda.

So for me, everything started many, many years ago

Za mene je sve počelo pre mnogo, mnogo godina

when I met the first 3D printer.

kad sam saznao za prvi 3D štampač.

The concept was fascinating.

Sami koncept je bio fascinantan.

A 3D printer needs three elements:

3D štampaču su potrbna tri elementa:

a bit of information, some raw material, some energy,

delić informacije, nešto sirovine, malo energije

and it can produce any object that was not there before.

i može da proizvede bilo koji objekat koji prethodno nije postojao.

I was doing physics, I was coming back home

Bavio sam se fizikom, vraćao sam se kući

and I realized that I actually always knew a 3D printer.

i shvatio da mi je 3D štampač poznat oduvek.

And everyone does.

Svima jeste.

It was my mom.

Majka je 3D štampač.

(Laughter)

(Smeh)

My mom takes three elements:

Moja majka je uzela tri elementa:

a bit of information, which is between my father and my mom in this case,

delić informacije, koja je u ovom slučaju između mog oca i moje majke,

raw elements and energy in the same media, that is food,

sirovine i energiju u istom medijumu, to jest hrani,

and after several months, produces me.

i nakon nekoliko meseci, proizvela je mene.

And I was not existent before.

A ja pre toga nisam postojao.

So apart from the shock of my mom discovering that she was a 3D printer,

Pored zapanjenosti moje majke kad je saznala da je 3D štampač,

I immediately got mesmerized by that piece,

istog trena sam bio očaran tim delom,

the first one, the information.

prvim delom, informacijom.

What amount of information does it take

Koliko informacija je potrebno

to build and assemble a human?

da se sagradi i sastavi čovek?

Is it much? Is it little?

Da li je potrebno mnogo? Malo?

How many thumb drives can you fill?

Koliko fleš memorija biste mogli da ispunite?

Well, I was studying physics at the beginning

Pa, na početku sam studirao fiziku

and I took this approximation of a human as a gigantic Lego piece.

i pretpostavio sam da je čovek poput džinovske lego slagalice.

So, imagine that the building blocks are little atoms

Zamislite da su kockice sitni atomi

and there is a hydrogen here, a carbon here, a nitrogen here.

i vodonik je ovde, ugljenik ovde, azot ovde.

So in the first approximation,

Prema prvoj pretpostavci,

if I can list the number of atoms that compose a human being,

ako bih mogao da nabrojim atome od kojih se sastoji ljudsko biće,

I can build it.

mogao bih ga sagraditi.

Now, you can run some numbers

Sad, možete da proverite brojke

and that happens to be quite an astonishing number.

i to je izgleda prilično zapanjujući broj.

So the number of atoms,

Pa je broj atoma,

the file that I will save in my thumb drive to assemble a little baby,

dokument koji bih sačuvao na fleš memoriji da bih sastavio bebicu,

will actually fill an entire Titanic of thumb drives --

zapravo bi ispunio čitav Titanik fleš memorijama -

multiplied 2,000 times.

pomnoženo 2000 puta.

This is the miracle of life.

Ovo je čudo života.

Every time you see from now on a pregnant lady,

Od sad, svaki put kad ugledate trudnicu,

she's assembling the biggest amount of information

ona sklapa najveću količinu informacija

that you will ever encounter.

na koju ćete ikad naići.

Forget big data, forget anything you heard of.

Zaboravite velike podatke, zaboravite bilo šta što ste čuli.

This is the biggest amount of information that exists.

Ovo je najveća količina informacija koja postoji.

(Applause)

(Aplauz)

But nature, fortunately, is much smarter than a young physicist,

Ali priroda je srećom daleko pametnija od mladog fizičara

and in four billion years, managed to pack this information

i za četiri milijarde godina je uspela da upakuje ove informacije

in a small crystal we call DNA.

u maleni kristal koji nazivamo DNK.

We met it for the first time in 1950 when Rosalind Franklin,

Prvi put smo saznali za njega 1950. kada ga je Rozalind Frenklin,

an amazing scientist, a woman,

neverovatna naučnica,

took a picture of it.

fotografisala.

But it took us more than 40 years to finally poke inside a human cell,

Ali trebalo nam je preko 40 godina da konačno prodremo unutar ljudske ćelije,

take out this crystal,

izvadimo kristal,

unroll it, and read it for the first time.

odmotamo ga i prvi put ga pročitamo.

The code comes out to be a fairly simple alphabet,

Ispostavilo se da je kôd prilično jednostavna abeceda,

four letters: A, T, C and G.

četiri slova: A, T, C i G.

And to build a human, you need three billion of them.

A da biste sagradili čoveka, potrebno vam je tri milijarde njih.

Three billion.

Tri milijarde.

How many are three billion?

Koliko je tri milijarde?

It doesn't really make any sense as a number, right?

Sami broj zaista nema nikakvog smisla, zar ne?

So I was thinking how I could explain myself better

Pa sam razmišljao kako da bolje objasnim

about how big and enormous this code is.

koliko je velik i ogroman ovaj kod.

But there is -- I mean, I'm going to have some help,

Ali evo ga - mislim, imaću malu pomoć,

and the best person to help me introduce the code

a najbolja osoba da mi pomogne da predstavim kôd

is actually the first man to sequence it, Dr. Craig Venter.

je zapravo prvi čovek koji ga je sekvencirao, dr Kreg Venter.

So welcome onstage, Dr. Craig Venter.

Zato, dobro došao na scenu, dr Kreg Venter.

(Applause)

(Aplauz)

Not the man in the flesh,

Ne čovek glavom i bradom,

but for the first time in history,

već prvi put u istoriji,

this is the genome of a specific human,

ovo je genom određenog čoveka,

printed page-by-page, letter-by-letter:

odštampan stranicu po stranicu, slovo po slovo:

262,000 pages of information,

262.000 stranica informacija,

450 kilograms, shipped from the United States to Canada

450 kilograma, isporučen iz SAD-a u Kanadu,

thanks to Bruno Bowden, Lulu.com, a start-up, did everything.

zahvaljujući Brunu Boudenu, Lulu.com, startap, su sve odradili.

It was an amazing feat.

Bio je to fantastičan podvig.

But this is the visual perception of what is the code of life.

Ali ovo je vizuelni doživljaj toga šta je životni kôd.

And now, for the first time, I can do something fun.

A sada, prvi put, mogu da uradim nešto zabavno.

I can actually poke inside it and read.

Mogu zapravo da zavirim unutra i da ga čitam.

So let me take an interesting book ... like this one.

Dozvolite mi da uzmem zanimljivu knjigu... poput ove.

I have an annotation; it's a fairly big book.

Imam zabelešku; prilično je obimna knjiga.

So just to let you see what is the code of life.

Prosto da vidite šta je životni kôd.

Thousands and thousands and thousands

Hiljade i hiljade i hiljade

and millions of letters.

i milioni slova.

And they apparently make sense.

I očigledno da imaju smisla.

Let's get to a specific part.

Pođimo do specifičnog dela.

Let me read it to you:

Dozvolite da vam pročitam:

(Laughter)

(Smeh)

"AAG, AAT, ATA."

"AAG, AAT, ATA."

To you it sounds like mute letters,

Vama ovo zvuči kao prazna slova,

but this sequence gives the color of the eyes to Craig.

ali ovaj redosled odaje Kregovu boju očiju.

I'll show you another part of the book.

Pokazaću vam još jedan deo iz knjige.

This is actually a little more complicated.

Ovo je zapravo nešto komplikovanije.

Chromosome 14, book 132:

Hromozom 14, knjiga 132 -

(Laughter)

(Smeh)

As you might expect.

kao što pretpostavljate -

(Laughter)

(Smeh)

"ATT, CTT, GATT."

"ATT, CTT, GATT."

This human is lucky,

Ovaj čovek ima sreće

because if you miss just two letters in this position --

jer ako ispustite samo dva slova u ovom redosledu -

two letters of our three billion --

dva slova od tri milijarde -

he will be condemned to a terrible disease:

biće osuđen na užasnu bolest:

cystic fibrosis.

cističnu fibrozu.

We have no cure for it, we don't know how to solve it,

Za nju ne postoji lek, ne znamo kako da je izlečimo,

and it's just two letters of difference from what we are.

a samo dva slova su različita nego kod nas ostalih.

A wonderful book, a mighty book,

Čarobna knjiga, moćna knjiga,

a mighty book that helped me understand

moćna knjiga koja mi je pomogla da shvatim

and show you something quite remarkable.

i da vam pokažem nešto izvanredno.

Every one of you -- what makes me, me and you, you --

Svako od vas - ono zbog čega sam ja ja, a vi ste vi -

is just about five million of these,

je samo oko pet miliona ovih slova,

half a book.

polovina knjige.

For the rest,

Što se tiče ostalog,

we are all absolutely identical.

apsolutno smo identični.

Five hundred pages is the miracle of life that you are.

Pet stotina stranica je čudo života koje predstavljate vi.

The rest, we all share it.

Ostalo svi mi delimo.

So think about that again when we think that we are different.

Zato se setite toga kad pomislite kako smo svi različiti.

This is the amount that we share.

Ovo je suma koju svi delimo.

So now that I have your attention,

Pa, sad kad imam vašu pažnju,

the next question is:

sledeće pitanje je:

How do I read it?

kako da to pročitam?

How do I make sense out of it?

Kako da pronađem smisao u tome?

Well, for however good you can be at assembling Swedish furniture,

Pa, koliko god ste dobri u sastavljanju švedskog nameštaja,

this instruction manual is nothing you can crack in your life.

ovo uputstvo za upotrebu je nešto što nećete shvatiti dok ste živi.

(Laughter)

(Smeh)

And so, in 2014, two famous TEDsters,

Pa su 2014, dva čuvena Tedovca,

Peter Diamandis and Craig Venter himself,

Piter Dijamandis i Kreg Venter lično,

decided to assemble a new company.

odlučili da osnuju novu firmu.

Human Longevity was born,

Rođen je Hjuman Londževiti,

with one mission:

sa samo jednom misijom:

trying everything we can try

da pokušamo sve što možemo

and learning everything we can learn from these books,

i da naučimo sve što možemo da naučimo iz ovih knjiga,

with one target --

s jednim ciljem -

making real the dream of personalized medicine,

da ostvarimo san personalizovane medicine,

understanding what things should be done to have better health

da razumemo šta treba da se uradi kako bismo bili zdraviji

and what are the secrets in these books.

i koje tajne kriju ove knjige.

An amazing team, 40 data scientists and many, many more people,

Fantastična ekipa, 40 naučnika za podatke i još mnogo, mnogo ljudi,

a pleasure to work with.

s kojima je užitak raditi.

The concept is actually very simple.

Koncept je zapravo veoma jednostavan.

We're going to use a technology called machine learning.

Koristićemo tehnologiju koja se zove mašinsko učenje.

On one side, we have genomes -- thousands of them.

S jedne strane, imamo genome - hiljade njih.

On the other side, we collected the biggest database of human beings:

S druge strane, sakupili smo najveću bazu podataka o ljudskim bićima:

phenotypes, 3D scan, NMR -- everything you can think of.

fenotipe, 3D snimke, nuklearnu magnetnu rezonancu, sve što vam pada na pamet.

Inside there, on these two opposite sides,

Unutar toga, na ovim oprečnim stranama,

there is the secret of translation.

nalazi se tajna prevodilaštva.

And in the middle, we build a machine.

A u sredini smo sagradili mašinu.

We build a machine and we train a machine --

Sagradili smo mašinu i obučili smo mašinu -

well, not exactly one machine, many, many machines --

pa, zapravo ne baš jednu mašinu, mnogo, mnogo mašina -

to try to understand and translate the genome in a phenotype.

da pokašaju da razumeju i prevedu genom u fenotipu.

What are those letters, and what do they do?

Šta su ta slova i koja je njihova svrha?

It's an approach that can be used for everything,

To je pristup koji može da se koristi svuda,

but using it in genomics is particularly complicated.

ali njegova upotreba u genetici je naročito komplikovana.

Little by little we grew and we wanted to build different challenges.

Malo po malo smo rasli i želeli smo da napravimo nove izazove.

We started from the beginning, from common traits.

Počeli smo ispočetka, od zajedničkih osobina.

Common traits are comfortable because they are common,

Zajedničke osobine su prijatne jer su zajedničke,

everyone has them.

svako ih ima.

So we started to ask our questions:

Pa smo počeli da postavljamo naša pitanja:

Can we predict height?

možemo li predvideti visinu?

Can we read the books and predict your height?

Možemo li čitanjem ovih knjiga predvideti visinu?

Well, we actually can,

Pa, zapravo možemo,

with five centimeters of precision.

preciznošću od pet centimetara.

BMI is fairly connected to your lifestyle,

Indeks telesne mase je usko povezan s vašim načinom života,

but we still can, we get in the ballpark, eight kilograms of precision.

ali i dalje možemo, možemo da pogodimo preciznošću od osam kilograma.

Can we predict eye color?

Možemo li predvideti boju očiju?

Yeah, we can.

Da, možemo.

Eighty percent accuracy.

Preciznošću od 80 procenata.

Can we predict skin color?

Možemo li predvideti boju kože?

Yeah we can, 80 percent accuracy.

Da, možemo, s 80 procenata tačnosti.

Can we predict age?

Možemo li predvideti starost?

We can, because apparently, the code changes during your life.

Možemo jer se očigledno kôd menja tokom vašeg života.

It gets shorter, you lose pieces, it gets insertions.

Postaje kraći, gubite delove, dodaju se umeci.

We read the signals, and we make a model.

Čitamo signale i pravimo model.

Now, an interesting challenge:

Sad, zanimljiv izazov:

Can we predict a human face?

možemo li predvideti ljudsko lice?

It's a little complicated,

Malo je komplikovano

because a human face is scattered among millions of these letters.

jer je ljudsko lice rasuto među milionima ovih slova.

And a human face is not a very well-defined object.

A ljudsko lice nije naročito dobro definisan objekat.

So, we had to build an entire tier of it

Pa smo morali da napravimo čitav niz njih

to learn and teach a machine what a face is,

kako bismo naučili i obrazovali mašinu da zna šta je lice,

and embed and compress it.

i da ga ugradi i sažme.

And if you're comfortable with machine learning,

A ako vam je poznato mašinsko učenje,

you understand what the challenge is here.

razumećete o kakvom se izazovu ovde radi.

Now, after 15 years -- 15 years after we read the first sequence --

Sad, nakon 15 godina - 15 godina nakon što smo pročitali prvi isečak -

this October, we started to see some signals.

ovog oktobra, počeli smo da zapažamo neke signale.

And it was a very emotional moment.

I bio je to izuzetno emotivan trenutak.

What you see here is a subject coming in our lab.

Ovde vidite subjekta koji je došao u našu laboratoriju.

This is a face for us.

Ovo je lice za nas.

So we take the real face of a subject, we reduce the complexity,

Uzimamo pravo lice subjekta, svedemo složenost

because not everything is in your face --

jer nije sve u vašem licu -

lots of features and defects and asymmetries come from your life.

mnoge crte i nedostaci i asimetrija potiču iz vašeg života.

We symmetrize the face, and we run our algorithm.

Ujednačavamo simetriju lica i provlačimo ga kroz naš algoritam.

The results that I show you right now,

Rezultati koje vam upravo pokazujem,

this is the prediction we have from the blood.

ova predviđanja dobijamo iz krvi.

(Applause)

(Aplauz)

Wait a second.

Sačekajte sekund.

In these seconds, your eyes are watching, left and right, left and right,

U ovim trenucima, vaše oči posmatraju levo i desno, levo i desno,

and your brain wants those pictures to be identical.

a vaš mozak želi da te slike budu identične.

So I ask you to do another exercise, to be honest.

Zato tražim od vas drugu vežbu, da budete iskreni.

Please search for the differences,

Molim vas da tražite razlike,

which are many.

ima ih mnogo.

The biggest amount of signal comes from gender,

Najveća količina signala dolazi od roda,

then there is age, BMI, the ethnicity component of a human.

potom je tu uzrast, indeks telesne mase, čovekova etnička komponenta.

And scaling up over that signal is much more complicated.

A prenošenje tog signala na veće razmere je daleko komplikovanije.

But what you see here, even in the differences,

Ali ono što vidite ovde, čak i uz razlike,

lets you understand that we are in the right ballpark,

dozvoljava vam da shvatite da su naše pretpostavke tačne,

that we are getting closer.

da smo sve bliži.

And it's already giving you some emotions.

I već imate neki utisak.

This is another subject that comes in place,

Ovo je još jedan subjekat koji se poklopio,

and this is a prediction.

a ovo je predviđanje.

A little smaller face, we didn't get the complete cranial structure,

Nešto sitnije lice, nismo pogodili u potpunosti strukturu lobanje,

but still, it's in the ballpark.

ali ipak, približno je.

This is a subject that comes in our lab,

Ovo je subjekat koji je došao u našu laboratoriju,

and this is the prediction.

a ovo je predviđanje.

So these people have never been seen in the training of the machine.

Dakle, mašina tokom obuke nikad nije videla ove ljude.

These are the so-called "held-out" set.

Ovo je takozvani "izostavljeni" skup.

But these are people that you will probably never believe.

Ali ovo su verovatno za vas neuverljivi ljudi.

We're publishing everything in a scientific publication,

Sve objavljujemo u naučnim časopisima,

you can read it.

možete to da čitate.

But since we are onstage, Chris challenged me.

Ali kako smo na sceni, Kris me je izazvao.

I probably exposed myself and tried to predict

Verovatno sam se izložio i pokušao sam da predvidim

someone that you might recognize.

nekoga koga biste možda prepoznali.

So, in this vial of blood -- and believe me, you have no idea

Dakle, u ovoj epruveti krvi - i verujte mi, nemate pojma

what we had to do to have this blood now, here --

šta smo morali da da uradimo da bismo doneli krv ovde -

in this vial of blood is the amount of biological information

u ovoj epruveti krvi je količina bioloških informacija

that we need to do a full genome sequence.

koja nam je potrebna da sekvenciramo čitav genom.

We just need this amount.

Svega ovoliko nam je dovoljno.

We ran this sequence, and I'm going to do it with you.

Odradili smo sekvenciranje, i uradiću to s vama.

And we start to layer up all the understanding we have.

I počeli smo da raslojavamo sve znanje koje imamo.

In the vial of blood, we predicted he's a male.

Iz ove epruvete krvi, predvideli smo da je muškarac u pitanju.

And the subject is a male.

Subjekat je muškarac.

We predict that he's a meter and 76 cm.

Predvideli smo da je visok metar i 76 cm.

The subject is a meter and 77 cm.

Subjekat je visok metar i 77 centimetara.

So, we predicted that he's 76; the subject is 82.

Dakle, predvideli smo da je '76. godište, zapravo je '82.

We predict his age, 38.

Predvideli smo da ima 38 godina.

The subject is 35.

Subjekat ima 35 godina.

We predict his eye color.

Predvideli mo njegovu boju očiju.

Too dark.

Suviše je tamna.

We predict his skin color.

Predvideli smo boju kože.

We are almost there.

Skoro da smo pogodili.

That's his face.

Ovo je njegovo lice.

Now, the reveal moment:

A sad, trenutak razotkrivanja:

the subject is this person.

subjekat je ova osoba.

(Laughter)

(Smeh)

And I did it intentionally.

Namerno sam to uradio.

I am a very particular and peculiar ethnicity.

Ja sam veoma karakterističan i karakterističnog sam porekla.

Southern European, Italians -- they never fit in models.

Južnoevropljani, Italijani - nikad se ne uklapaju u kalupe.

And it's particular -- that ethnicity is a complex corner case for our model.

A karakteristično je - da je narodnost kompleksan izuzetak za naš model.

But there is another point.

Ali ima tu još nešto.

So, one of the things that we use a lot to recognize people

Dakle, nešto što uveliko koristimo da bismo prepoznali ljude

will never be written in the genome.

nikada neće da bude upisano u genom.

It's our free will, it's how I look.

To je naša slobodna volja, naš izgled.

Not my haircut in this case, but my beard cut.

Ne moja frizura, u ovom slučaju, već moja brada.

So I'm going to show you, I'm going to, in this case, transfer it --

Pa ću da vam pokažem, u ovom slučaju ću da to prenesem -

and this is nothing more than Photoshop, no modeling --

a ovo nije ništa više od fotošopa, nije modelarstvo -

the beard on the subject.

brada na subjektu.

And immediately, we get much, much better in the feeling.

I momentalno imamo mnogo, mnogo bolji utisak.

So, why do we do this?

Dakle, zašto ovo radimo?

We certainly don't do it for predicting height

Sigurno to ne radimo da bismo predvideli visinu

or taking a beautiful picture out of your blood.

ili da bismo izradili lepu sliku iz vaše krvi.

We do it because the same technology and the same approach,

Radimo to jer ista ova tehnologija i isti pristup,

the machine learning of this code,

mašinsko učenje ovog koda,

is helping us to understand how we work,

pomaže nam da razumemo kako funkcionišemo,

how your body works,

kako vaše telo funkcioniše,

how your body ages,

kako vaše telo stari,

how disease generates in your body,

kako bolesti nastaju u vašem telu,

how your cancer grows and develops,

kako vaš rak raste i razvija se,

how drugs work

kako lekovi funkcionišu

and if they work on your body.

i da li deluju na vaše telo.

This is a huge challenge.

Ovo je ogorman izazov.

This is a challenge that we share

Ovo je zajednički izazov

with thousands of other researchers around the world.

nas i hiljada drugih istraživača širom sveta.

It's called personalized medicine.

Naziva se personalizovanom medicinom.

It's the ability to move from a statistical approach

To je mogućnost da se pomerimo sa statističkog pristupa,

where you're a dot in the ocean,

u kom ste tačkica u okeanu,

to a personalized approach,

do personalizovanog pristupa,

where we read all these books

gde čitamo sve ove knjige

and we get an understanding of exactly how you are.

i stičemo saznanje o tome tačno kako ste vi.

But it is a particularly complicated challenge,

Ali je naročito složen izazov

because of all these books, as of today,

jer od svih ovih knjiga, do danas,

we just know probably two percent:

znamo verovatno samo dva procenta:

four books of more than 175.

četiri knjige od preko 175.

And this is not the topic of my talk,

A ovo nije tema mog govora

because we will learn more.

jer ćemo saznati više.

There are the best minds in the world on this topic.

Najveći umovi na svetu se bave ovim pitanjem.

The prediction will get better,

Predviđanje će postati bolje,

the model will get more precise.

model će biti sve precizniji.

And the more we learn,

A što više naučimo,

the more we will be confronted with decisions

više ćemo biti suočeni s odlukama

that we never had to face before

s kojima se pre nismo morali suočavati

about life,

o životu,

about death,

o smrti,

about parenting.

o roditeljstvu.

So, we are touching the very inner detail on how life works.

Dakle, dodirujemo samu unutrašnju pojedinost kako život funkcioniše.

And it's a revolution that cannot be confined

A to je revolucija koja ne može da bude ograničena

in the domain of science or technology.

u domenu nauke ili tehnologije.

This must be a global conversation.

Ovo mora da bude globalna diskusija.

We must start to think of the future we're building as a humanity.

Moramo početi da razmišljamo o budućnosti koju kao čovečanstvo gradimo.

We need to interact with creatives, with artists, with philosophers,

Moramo da sarađujemo sa kreativcima, umetnicima, filozofima,

with politicians.

političarima.

Everyone is involved,

Svi su uključeni

because it's the future of our species.

jer se radi o budućnosti naše vrste.

Without fear, but with the understanding

Bez straha, ali uz razumevanje

that the decisions that we make in the next year

da će odluke koje donesemo naredne godine

will change the course of history forever.

zauvek da promene pravac istorije.

Thank you.

Havala vam.

(Applause)

(Aplauz)