(bright music) (bright music continues) (bright music continues) It was newsworthy.

I mean, this was like biology's moonshot.

(bright music) The Human Genome Project was this international effort with thousands of scientists that worked together to build something like a, we call a map of the human genome.

(bright music continues) I was invited to go to a meeting in Alta, Utah, with 19 scientists total.

I was the youngest person there.

This was 1984.

And they were trying to see if they could figure out how to measure the rate of mutation that occurs in parents' germline, sperm and egg.

People who were there said, "This is probably, the rate of solo, that we would probably have to sequence the human genome to figure it out."

And everybody laughed because what an absurd idea to sequence the human genome.

(bright music continues) It was funded by the Department of Energy and they went back and said, "Hey, maybe we should figure out how to sequence the human genome."

They actually initiated this, and the NIH and a big group in England and groups later around the world decided to start the Human Genome Project.

As befits an undertaking that can benefit the whole of humankind, this project has also brought together the best of the global scientific community.

Scientists from Japan and Germany, France, China, and around the world have been involved as well as the UK and the US.

And this undertaking, therefore, has brought together the public, private, and nonprofit sectors in an unprecedented international partnership.

The way that it was organized was that humans have individual chromosomes.

So, we'd split up the individual chromosomes.

So, it made some sense to be able to split those up around the world.

The US contributed many of those chromosomes, the UK contributed a significant amount, and then other parts of chromosomes were spread around these other different labs in the world to work on, and they really became domain experts on that chromosome, what the structure of the DNA looked like, what the complex elements and repetitive elements of the genome looked like, to be able to reconstruct those individual first versions of the reference genome.

You're trying to basically read the letters in DNA in the right order, and that's what sequencing means, but also to get it accurate.

The idea behind sequencing a genome was to build ever-increasing higher-resolution maps.

So, just like if you were like looking at a world map and you just had some countries on there and you're like, "Okay, I can find the US.

I can find China.

I can find England," then you'd be like, "Okay, well, what if I zoomed in a little bit?"

And now you can kind of see the freeway systems.

And so now you can say, "Oh, these are freeways," and you can see some cities on that map.

And then you zoom in further down into the level where you can see streets and towns and stop signs.

And then eventually you get this map that matches exactly what the world looks like.

And so the idea of the Human Genome Project was that we would continue to work on increasing levels of resolution until we could get down to that last base pair.

You have a map of the stars.

You can see the stars, but you can't reach up and pluck out a star.

Well, what these guys did is they built a super ladder and they built it all the way up to the star and they plucked it out of the heavens and they brought it down to the earth to study.

So, it's available.

It means that you really can use it.

[Reporter] Scientists already know that chromosome 21 contains genes responsible for several diseases, including a form of Alzheimer's and Down syndrome.

And studying the chromosome could lead to better diagnosis and treatments.

The Y chromosome has the information that makes an individual become male or female.

So, scientists will be able to better study sexual differentiation.

And the latest achievement will lead to the discovery of many more genes as part of the biggest project in biology.

At UC San Francisco, I was working with a colleague, Dr. David Cox, and we were looking for disease genes and developing mapping techniques.

So, we got to be the initial part of the Human Genome Project when it started in October 1990.

And the idea there was to find the entire genetic makeup of one human being.

And the truth is, in 1990, we really had no idea how we were gonna do it.

It would've taken a hundred years with the existing technologies.

We had no idea how to get there at that point.

So, it was a really big sort of adventure and cutting edge, I guess, at the time.

Things that we can do overnight today were sort of, you know, needed a thousand people and millions of dollars to do.

Clearly, it had to have a lot of technology development.

We were one of the first labs, and then we moved that soon, I moved it down to Stanford University where we did most of the work.

We built a team there at our Genome Center there.

Jeremy Schmutz and Jane Grimwood were the major players in that team.

In fact, led the groups to actually do this.

It was incredibly hard.

We had to piecemeal our way through little bits of DNA and piece it all together from the DNA sequencing.

(bright music) I had the charge of sequencing the entire genetic makeup of three of the human chromosomes.

It was about 11% of the entire makeup, entire genome.

When the opportunity came up to sort of work on the human genome and try to build some of that technology there, you know, it's the intersection of kind of computing, which is what I've spent a lot of my life working on, computing and data analysis and the ability to also produce a lot of data that you could use to understand how life functions, how organisms work, and how they interact with their environment.

The Human Genome Project drove an enormous amount of innovation in the technologies.

When we finished in 2003, we really finished the entire sequence, the finished sequence in 2003, it was 13 years.

It took billions of dollars, thousands of scientists, and unusual in that the data were released immediately that had nothing to do, we did not patent or wait for publication.

Not that there wasn't value that could be patented from it, but the idea is that this is a community public effort.

The public paid for this in all of the countries that participated in it, especially the United States doing 65% of it.

And so we wanted it to be available freely for everybody.

And so that's what we were celebrating.

The press conference was, it was at the White House.

You know, I mean, that was huge, right?

I mean, nothing else, you know, that was something of a lifetime for me.

That's never gonna, you know, I'm never gonna be a part of that sort of project again, I think.

-(audience applauds) -Thank you.

Thanks.

Good morning.

Nearly two centuries ago, in this room on this floor, Thomas Jefferson and a trusted aide spread out a magnificent map, a map Jefferson had long prayed he would get to see in his lifetime.

The aide was Meriwether Lewis and the map was the product of his courageous expedition across the American frontier all the way to the Pacific.

It was a map that defined the contours and forever expanded the frontiers of our continent and our imagination.

Today, the world is joining us here in the East Room to behold a map of even greater significance.

We are here to celebrate the completion of the first survey of the entire human genome.

Without a doubt, this is the most important, most wondrous map ever produced by humankind.

After all, when Galileo discovered he could use the tools of mathematics and mechanics to understand the motion of celestial bodies, he felt in the words of one imminent researcher, that he had learned the language in which God created the universe.

Today, we are learning the language in which God created life.

We are gaining evermore awe for the complexity, the beauty, the wonder of God's most divine and sacred gift.

With this profound new knowledge, humankind is on the verge of gaining immense new power to heal.

Genome science will have a real impact on all our lives and even more on the lives of our children.

It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.

(bright music) Now, we weren't done in the other sense that we wanted to learn a lot more about the genome.

What does it actually mean?

How do you actually figure out the functions of all those letters in the DNA?

And then how do we figure out how to do this and really apply it in real time for people and for health and disease?

And that's what a lot of what we do here at HudsonAlpha is to apply those.

(bright music continues) I think that we at least have a role in the history of genomics and genetics because we participated in the Human Genome Project, but many other types of studies, and when we first came here 14 years ago, this was still pretty new, thinking about the applications.

(bright music continues) It turns out nobody does research or makes these discoveries in a vacuum.

I think a lot of people like to think that they did it on their own.

But the truth is, it's really is in every case a village.

It's lots.

And you're building on the work of many, many other people.

And in genomics, it's so interdisciplinary.

You have to have computation.

You have to have statistics.

There's a lot of quantitative things.

There's a whole lot of molecular biology.

There's human genetics or other kinds of genetics.

All of these different disciplines that really aren't completely divided up.

It seemed like they're silos where we had to put all those together and the only way we would've done the Human Genome Project is as a big team like that.

There literally were 2,000 people to get the first human genome from around the world.

I learned very early on that working together, sharing and collaborating, and not trying to just do it all on your own is much more fruitful and it sure is a heck of a lot more fun doing it that way.

I love that and continue to actually do those kinds of collaborations.

And when we built HudsonAlpha, we wanted to do that in a big, big way.

(bright music continues) I decided that I wanted to take this job when I was still at Stanford, actually about a year and a half before I moved here 'cause our son was finishing high school.

My boss there thought I was crazy.

It did help that I had lived in the South.

I grew up in Alabama, and I didn't have a chip on my shoulder about it being Alabama at all.

I didn't really have plans to come back, but it was the opportunity to build this that was so exciting.

And so when I did it, I have to tell you, the one thing I was most concerned about is that will I be able to recruit good people?

Just didn't know how hard it was.

This was a cotton field or farming before they broke ground in the building.

[All] Two, three.

Hooray!

Hooray!

[Reporter] How exciting is this for you?

Oh, words can't describe it.

I'm on a cloud.

The research that'll be going on here is gonna be phenomenal for our area and for the country.

I think this is one of these sea changes in an economy and we're building the foundation here to kind of transform all of Alabama's economy.

I knew that I would need to get really good scientists to come in, at least being part of the first groups to come.

So, I did a little "Ocean's Eleven" thing, as my son accused me of doing, and got some of my friends and colleagues together to talk to them about having a caper together.

10 ought to do it, don't you think?

You think we need one more?

You think we need one more.

All right, we'll get one more.

We met at the Stanford Human Genome Center back in 2000.

I'd just been hired by Rick Myers to lead what was called the finishing group at the Genome Center.

I remember a meeting during my interview process and Jeremy walked in and that's when we met.

Maybe that's your memory.

I don't know.

Yeah, I was already working Stanford for several years at that point and I was leading the computational group, where we would take data that comes off the sequencing instruments and then try to put it together into pieces of genomes.

So, we were both at Stanford, no intention of moving.

Rick Myers, who was the president of HudsonAlpha, came to us one day and said he's taken this job at HudsonAlpha and asked us if we would like to join him.

And, you know, it was a hard decision.

I mean, we were at Stanford.

We lived in Menlo Park, you know, a great neighborhood, a great city.

But at the same time, there was this promise of HudsonAlpha and what it would give us and we came on a couple of visits, I think, and then we decided to join.

I think there probably are about 25 who came from Stanford.

Then we recruited people from other places.

Some are from the Southeast.

So, we had people from Vanderbilt and Emory and other places, but really from all over.

Yeah, really the sort of promise of HudsonAlpha has been to try to bring the kinds of things that we do in the research lab, you know, into sort of more applications in the real world.

I think that's what makes HudsonAlpha unique, is it has these, Smith Family Clinic is the only genetics clinic, I believe.

And, you know, using a lot of the knowledge that we gained in the Human Genome Project, we can offer the patients some hope.

Sequencing the genomes, analyzing the genomes, trying to return anything that is useful.

But that's still a work in progress.

We still have a long way to go to figure out what it is that makes some people sick.

Even with all this advancing technology over these 30 years, a lot of it, we have still have a lot of unknowns.

What's the future look like for genomics and how does genomics play into the rest of, you know, what's going on in the world?

And, you know, genomics has really become kind of central to all different aspects of biological science.

I have sort of lived through this transition in all different areas.

You know, like, you can't do things like ecology anymore.

You can't do things like evolution anymore.

You can't, you know, understand how any really organism works anymore with starting to understand its DNA and how its DNA works to interact with the environment that it lives in.

That extends everything from, you know, like people through plants, but also to microbes and protists and things we call, floaty things that live in the ocean.

[Jane] SARS-CoV-2.

SARS-CoV-2, that's right, exactly, and how viruses function.

And now, you know, that is where genomics has already entered into all these kinds of fields.

And so it really provides kind of a unifying force for biological science where you can do these measurements and compare.

And in the past, we just relied on observations for most of these sciences.

We do a lot in neurodegenerative and neuropsychiatric disorders.

So, we have applications there that are finding genes involved in Alzheimer's disease, for instance.

That's one of the areas.

Some of the same things in cancer and trying to find how do, one of the areas in cancer, it's a smaller effort in cancer, but one of the things there, always in collaboration with others, is why do people develop resistance to treatments when they're being treated with cancer?

That's a serious problem in cancer.

And we're using genomic tools to help figure that out.

17 years ago, the federal government established a research project with the ambitious goal of mapping the entire human genome.

The genome is best described as the code of life, the 3.1 billion-letter instruction book that conveys all kinds of information and all kinds of mystery about humankind.

Those were the words of Dr. Francis Collins, director of the National Human Genome Research Institute, and the man who led the federal project to full and thrilling success.

Many discoveries yet to be made and many scientific triumphs yet to be achieved will be directly traceable to the work of the Human Genome Project.

With genetic mapping, researchers know more than ever about the hereditary influences behind cancer and heart disease and diabetes and many other conditions.

And that understanding holds the key to earlier detection of illness, individualized treatments, and even lifesaving cures.

Dr. Collins has often noted that at the DNA level, we're all 99.9% the same, all of us.

It's a reminder that the Human Genome Project, with all the promise it holds for tomorrow, also confirms scientifically the timeless wisdom of the brotherhood of man.

Americans are rightly proud this project succeeded in our own country and we are proud of the wise and humane American scientists behind it.

(bright music) We can do that a lot cheaper and a lot faster than we used to be able to do it.

So, we've done this for thousands of individuals, and literally 30 to 45% of the time, the group is able to figure out what the cause is.

You may not be able to, certainly not necessarily cure the disease.

Sometimes it definitely points you in a direction for treatment.

It helps you at least understand it, and that's really important to families and physicians.

You stop the diagnostic odyssey of going from one place to the other to the other, never coming back with an answer.

At least you know the answer.

And it helps a lot with planning and other family members and things like that.

This is one of those projects that's very research oriented that immediately has a practical impact on people, on real people in the public, and, you know, not just in the research arena.

That was one of our goals in building HudsonAlpha and I'm really proud of that one.

I'm not the one who did this.

I'm really proud of that one just 'cause it's been so, had such a big impact.

HudsonAlpha has so much potential.

I think we're only just getting started in the area of genomics and there's so much out there, and the way that HudsonAlpha is placed with the economic development, education, and research, it's such a great combination of different avenues all pursuing the same goals that I think there's great things to come.

(bright music) (bright music) (bright music continues) (bright music continues)