It was just, personally, awesome,
to look at my computer,
and see for the first time,
this bit of human sequence that's been four billion years in the making.
And here I am reading it,
I'm the first one to ever see this
and it's only a little bit and there are three billion bases of it,
but it's here for the first time.
You know for the human species to read its own genome, it's it's awesome.
In the late 1970’s Bob Waterston was studying the molecular biology of the nematode worm in Washington University
when a conversation with biologist Maynard Olson introduced him to the concept of mapping a genome
I thought it was crazy, but as I thought about it, I just thought it was wonderful.
That you could think about getting the whole genome, all of the information,
just in little test tubes in, in your freezer,
and you could just go to it and capture any bit of it.
Mapping a genome would have huge practical benefits, but Maynard saw a deeper reason too.
He comes from a chemistry background. And I think he was frustrated with the lack of definitive answers.
The metaphor that he used was that biology was like quicksand
and you just sunk deeper and deeper into the complexity.
But the genome was like bedrock.
The genome is all the information that's passed on from one generation to the next.
And that's it. It's a huge amount of information, but that's it.
And if we understood that. We'd be in a very strong position.
Bob worked closely with John Sulston mapping the worm, which was to become one of the model organisms
that would be used to test sequencing methods for the human genome project.
By the time they were sequencing they had separate labs,
but the friendship and collaboration continued.
The worm community was, is very different from the human community.
We had something called the Worm Breeder’s Gazette. Which came out,
yeah, the Worm Breeder's Gazette, my kids always make fun of it.
You submitted your little one page abstract or whatever it was you were doing.
And they got stapled together and sent around to everybody in the community.
And the idea was that you told people what you were working on, what your great ideas were,
and there was a community spirit that kept you from taking advantage of somebody else's ideas.
When John Sulston started mapping the worm he immediately wanted to involve the wider community.
The community's job was to take those pieces and associate them with the genetic map, and
they would do that by cloning their favourite gene.
So then you end up with a piece, lots of DNA, which is integrated with the genetic map,
and then you have a real genome.
In the early stages of the project, computers were just about getting to the point that
this was possible,
and by the time they started sequencing there was the internet.
The National Institutes of Health or NIH were fairly light-touch with the worm-scientists.
Fortunately for us the NIH didn’t care about the worm, you know, they were focused on the,
on the human map
and the worm project was kinda fun and interesting
but they weren’t monitoring it so closely.
So we did whatever we wanted and we put it all out on the web.
After the collaborative approach of sequencing the worm
Waterston and Sulston felt that to work in competition on the human genome was simply inefficient.
We already had the experience that we were working on a gene that had to do with some human disease trait.
And another lab,
they sequenced the exact same gene.
So at a time when sequence was very precious one of us wasted our time for sure.
We had the whole human genome. We had this whole vast expanse.
In the high stakes world of human genetic research they wanted labs not only to work
together but, radically, to share their findings with the whole world.
It was not an easy sell. But eventually we got people on board
and I think it really was because we had this very strong history of doing this with the worm.
The benefits of this approach soon became obvious
You didn't have to wait for publication. You didn't have to even wait for the thing to be finished.
You could get the sequence as it was being generated and figure out what was going on yourself.
You had to figure it out. You had to do more work because it wasn't a finished product.
But if you did that, you could have it right away.
Science is a community effort and we have to get this data out to the community.
The public sequence became the reference sequence because it was high quality,
it didn't have all the gaps that had that both groups had when the draft came out and
it was available
Waterston and Sulston’s commitment to the free publication of the human genome paid off.
And looking back - Bob is both amazed at what the project achieved and frustrated by it's shortcomings.
In many ways it’s more than fulfilled its potential,
I mean the first thing people will do if they’re going to study a new organism is get genomes sequenced.
The potential to influence medicine, it’s not been as fast as I would have hoped.
You know I took care of sick kids and it’s devastating to not be able to help them,
and genomics could help.
I think the possibilities for real impact are increasing.