PI Name: Jonathan Pevsner
Number of Years in BCMB: >12
Model System(s): Human genome, mammalian cell culture
Research Area: Genomics of childhood and rare diseases, relatedness and inbreeding within human populations.
Joseph Baugher – BCMB student
Eric Stevens – Human Genetics student
Matt Shirley – BCMB student
Larry Frelin – Research Technician
BCMBNews (BN): You wrote a very successful bioinformatics textbook. What motivated you to do this?
JP: I’m dedicated to teaching—including a BCMB core course—and the book is an extension of the teaching. Writing it has helped me become a better teacher.
BN: How would you describe the work environment in your lab?
JP: We strive to be rigorous, creative, productive, and to enjoy the process of discovery. I encourage students to find projects that they feel passionate about, especially because research involves such a combination of long-term commitment to a problem and intense focus on going deep into the details on a daily basis. If you’re passionate about a problem, you can find a way to succeed and enjoy the process.
BN: What direction do you see your research taking over the next five years?
JP: I believe we’ll be able to apply genomics to help the patient populations we’re studying, especially children with brain disorders. We have new tools that let us detect genetic variation, including whole genome sequencing. Using these tools could lead to diagnosis and perhaps even treatment for a broad range of disorders. In many cases knowing the genetic basis of a disorder does not lead to treatments, because we don’t understand enough about gene function. But even in those cases it’s already becoming possible to offer genetic counseling to families who have affected children, and that’s progress.