Recorded: 08 May 2012
So, in the ten years since the Human Genome Project we have discovered an enormous amount about what genes and what other elements in the Human Genome may affect fundamental life processes and fundamental disease processes. So, sometimes you read articles that say ‘Well, we’re disappointed that there are not more medical advances from the human genome.’ I don’t understand how you can write or think that way. It’s crazy to expect that you would just discover the one gene that would cure all diseases, we’ve discovered – we’ve learned an immense amount just by looking at the genome to find places that are associated with diseases, even if the effect is small, the fact that a particular gene is associated in a pathway that is instrumental in the disease is important information and will eventually lead to translation into practice. It doesn’t happen overnight. I think there’s a lot of impatience. But what’s happening now is much at a different scale. I think we are actually going through a phase shift now where we are switching from reference genome genomics, where we were sequencing one genome from each species into personal genomics, where every individual animal has their own genome sequence and in particular, obviously, most of those are humans. And when we do sequence a Human Genome we get exceptional information; again, just based on the genome you were born with, there is a lot of information about your disease susceptibility and what may be important for you, choosing a lifestyle and so forth. But, when you look at what’s happening today, one of the most dramatic impacts of sequencing is not by sequencing the germ-line genome, which we see in most of our cells, but by sequencing the cancer genome, which we see in a few bad actors. So when we look at tumor cells we see radical changes to the DNA and we know that cancer is a disease that is completely driven by genetic changes. So, there is no question that understanding the mutations that are driving the cancer would be fundamental in better treatment of the disease. Again, it doesn’t translate immediately into better treatment but it is absolutely essential and it will translate into medical benefit faster than other areas of genomics.
David Haussler (born 1953) is an American bioinformatician known for his work leading the team that assembled the first human genome sequence in the race to complete the Human Genome Project and subsequently for comparative genome analysis that deepens understanding the molecular function and evolution of the genome. He is a Howard Hughes Medical Institute Investigator, professor of biomolecular engineering and director of the Center for Biomolecular Science and Engineering at the University of California, Santa Cruz, director of the California Institute for Quantitative Biosciences (QB3) on the UC Santa Cruz campus, and a consulting professor at Stanford University School of Medicine and UC San Francisco Biopharmaceutical Sciences Department.