Description of Research:
I am involved in the diagnosis and management of patients with a wide variety of genetic conditions, including single disorders, chromosome abnormalities, inborn errors of metabolism. I have developed a particular interest in Cantu syndrome, which is a rare autosomal dominant disorder associated with cardiovascular abnormalities, bone dysplasia and hirsutism. Cantu syndrome had been shown to be caused by defects in ABCC9, which encodes SUR2, a subunit of the ATP-sensitive potassium channel present in cardiac and smooth muscle. I plan to pursue further clinical investigations into Cantu syndrome.