“I wanted to understand why this was happening by looking at his genome,” says Rothberg, who received his M.S., M.Phil., and Ph.D. in biology from Yale. “That was the genesis of the sequencing technology.”
At the event — hosted by the Yale Peabody Museum of Natural History and the Yale School of Forestry & Environmental Studies — Rothberg, chairman of 4Catalyzer, will discuss the evolution of DNA sequencing, what it has taught us about life on earth, and its potential to transform humankind and the environment.
In an interview with F&ES, he shared a preview of his discussion, which is free and open to the public. Registration is required.
Q: Was it your experiences after the birth of your son that pulled you into this field of study?
Absolutely, and ‘pull’ is the right word. I thought I was on top of the world. I was the CEO of a public company, and when my son was brought to newborn intensive care, I realized I wasn’t interested in the human genome as a map of humanity — I really just wanted to understand my son’s genome. That led me to develop the first technology that enabled low-cost sequencing. It ended up becoming not just a company but also an industry known as Next Generation Sequencing (NGS). And then, once my son was fine, I wanted to do some of the things I’d been thinking about for decades, which included decoding Jurassic DNA. I called Svante Pääbo,
who was the world’s authority on ancient DNA, and said, ‘Let’s sequence a dinosaur.’ He didn’t hang up. But he said let’s try something a little more recent. I said, ‘OK, let’s do Neanderthal.’ Again, he didn’t hang up, even though Neanderthal DNA is the most precious DNA in the world. Instead, he said, ‘I can give you cave bear, which is the same age as Neanderthal’ — about 35,000 years old. After he did that, we decoded more ancient DNA than had been done cumulatively in the history of science to that point. He did send us Neanderthal DNA after we successfully sequenced the cave bear.
Q: What did you learn about life on this planet from that research?
The research on ancient DNA touches on two big questions: How does life adapt to climate change in the course of millions of years, or hundreds of thousands of years? And more specifically, because we looked at Neanderthal, how has modern man adapted over the last 500,000 years? In general, ancient DNA can teach us how we’ve adapted as mammals and
how we’ve done it as humans. Specifically, we’ve seen genes that give a competitive advantage in all the human populations are out of Africa, from Neanderthal. When you look at those genes, they have adapted us for climate, so that one could survive in a northern climate, and given us the ability to create fantastic technologies.
Q: What are some of the practical applications coming out of these discoveries, particularly when it comes to tackling environmental challenges?
At the environmental level, the research has had some broad applications. If you apply it to medicine, for instance, right now we have a crisis in the number of children with autism. What we’ve learned from the work on Neanderthal are the genes that are likely to have given us the ability to have some of our complex thought processes and speech. You can now look for those genes in people with developmental disorders to better understand autism. And so the practical side of these discoveries has been its impact on our understanding of things as important as autism and as global as how do we adjust to a changing climate.