The human genome has been sequenced for more than a decade now, so what are the new big questions facing the field of genetics?
The biggest questions are how does the genome function to give rise to living individuals and also how does it result in individuals with different physical characteristics, disease risks, and other variations.
You mentioned disease risk. What are some of the diseases that are associated with genetic regulation, in other words, how high or low a gene is tuned?
A lot of common complex diseases are associated with genetic markers, from cardiovascular disease to schizophrenia. In all of those diseases, research shows us that genetic regulation is a factor.
What are some reasons the same gene might work differently in different people?
Variation is pervasive in the genome, and almost all genes have a regulator gene that controls how active they are. We’ve gotten really good at finding these regulators and variations, which means we have a huge haystack of things to sort through as we work to find things that are connected to disease risk.