As a clinical and biochemical geneticist, I am passionate about diagnosing and treating children and families with rare diseases. My clinical activities, educational roles, and research embrace all aspects of rare disease care.

I oversee the Emory Metabolic Clinic, where we care for nearly 900 patients with rare inborn errors of metabolism. As the Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), I am extensively involved in Georgia's NBS new development, implementation, and clinical follow-up for children with metabolic disorders. As the vice-chief of the genetics service at Children's Healthcare of Atlanta, my colleagues and I provide genetic consultation to pediatric patients from the entire state. Currently, I am the medical director of Emory CRD (CTCF-related disorder) Center and the geneticist of the multidisciplinary differences of sex development (DSD) clinic at Children's Healthcare of Atlanta (CHOA) to provide expertise on molecular diagnosis to guide treatment. I am a committee member of NORD data collection & analysis working group that aims to promote collaboration and data sharing for best care and research on rare diseases.

I have multiple educational roles, including the assistant program director for Medical Biochemical Genetics Fellowship program, the CME course director for weekly Emory genetics clinical conferences, and bedside teacher for medical students, residents, and genetics counseling students. I also sponsored the first Emory Genetics Interest Group at Emory College to foster interest and attract intelligent students to join the growing field of medical genetics.

My research interests are primarily devoted to exciting clinical trials for rare diseases. I'm the principal investigator for multiple Phase I/II and III clinical trials. Through broad collaboration, I am also interested in new gene discovery and better defining the phenotype of rare genetic diseases.