Gene Discovery And Clinical Impact, Rare Disease Studies For Broader Medical Knowledge

May 11, 2018 | Catherine Brownstein of Boston Children’s Hospital and Harvard Medical School is featured on this podcast from Cambridge Healthtech Institute for the Bio-IT World Conference & Expo. Brownstein speaks about her gene discovery work and how research on rare and orphan disease enhance our understanding of medicine overall, among other topics. Podcast

Here is a sample of the discussion that takes place:

CHI: What determines the disease genes and conditions you study, with an eye on clinical impact?

Catherine Brownstein:  I work at the Manton Center for Orphan Disease Research at Boston Children's Hospital, which investigates any condition that's defined as an orphan disease, which means that it affects less than 200,000 people. I have a special interest in rare conditions that have impact on more common conditions. For example, when I was doing my PhD work, I did it on hypophosphatemic rickets, which has impacts on bone density research. Right now, I work on very early onset psychosis, which is defined as symptom onset before age 13, but that work has impact for normal onset schizophrenia and for mental health conditions overall. But I try not to focus. If something comes in that's extremely interesting, of course we're going to go all for it and investigate it to the best of our ability.

CHI: How does research on rare and orphan disease enhance our understanding of medicine overall?

Catherine Brownstein: Rare and orphan diseases can sometimes be severe monogenic forms of more common diseases. For example, if a child is hearing voices at age 4, that's extremely severe and extremely unusual. We are more likely to find a structural variation in the genome or some other genetic variation that is likely to be related to the condition. In contrast, most schizophrenics present around ages 18 to 22, or early adulthood, and we may or may not be able to pinpoint the cause because it's a known multigenic disorder. And when I was looking at rickets, we identified regulators of bone density that could be interesting for pharmaceutical companies to look into. Perhaps one of them could be a target for drug development for osteoporosis or some other bone conditions that affect a large amount of people worldwide.