David Starr Jordan Memorial Lecture
"How is the human population explosion affecting the genetics of complex disease?"
Human evolutionary history is central to the nature of our inherited chronic diseases. However, studies of inheritance patterns across the broad scale of the human “genome” (the total inherited information that supports our humanity) have not yet found much of the genetic variation for risk of these disorders. Those studies have focused on common variation, so one possible explanation is that the variation responsible for most disease risk occurs mainly as individually rare variants. To get a first glimpse at the nature of that rare variation, we obtained DNA sequences of just two short genes in 13,715 people. More than 700 novel variants were found and validated, far more than would previously have been expected. But when the recent explosive growth of human populations is accounted for, it turns out that the human genome should indeed be riddled with such vast and rapidly growing numbers of rare variants. The consequences for future human genetic disease risk, and for human evolution, are sobering to consider.
Hewlett Science and Engineering Teaching Building, Serra Mall, Room 201 8:00 pm