Francis Choy PhD

Dr. Francis Choy studies the biochemistry and genetics of inherited diseases. It’s an emotional job, given the impact of the diseases on the patients he studies. Part of his job consists of assisting doctors from around the world screen patients (and sometimes fetuses) for certain rare genetic mutations. He also helps diagnose genetic diseases in children. He loves the relief he sees on the faces of expectant parents when he can tell them their offspring will be fine, but not every couple is so lucky. He has corresponded with some families for years, and in one case, even lobbied a drug company to give free treatments worth millions of dollars to help alleviate symptoms.

Choy currently focuses on three metabolic disorders that profoundly affect children: Gaucher disease, Sanfilippo syndrome and glycine encephalopathy.