As a pediatrician and clinical geneticist, my primary clinical interest is in the diagnosis and management of a wide range of genetic disorders. I have a particular interest in the diagnosis and management of inborn errors of metabolism and skeletal dysplasias including osteogenesis imperfecta. My research interests focus on understanding the etiology of long-term complications of urea cycle disorders and developing new therapeutic strategies for managing this group of disorders. In addition, I am involved in whole exome sequencing projects focusing on the discovery of novel genes associated with rare skeletal and metabolic disorders.
EVENTS & ACTIVITIES (Speaking, Spoken, and Authored)