Overview

I serve as the Section Chief of the Division of Medical Genetics, coordinating the wide spectrum of genetic services at Emory and actively expanding the Division to provide timely and state of the art genetic care (http://genetics.emory.edu/patient-care). My clinical responsibilities include the diagnosis and care for children and adults with birth defects, lysosomal storage diseases and inborn errors of metabolism. Teaching medical students, genetic counseling students and medical residents is another important aspect of my responsibilities. I also serve as the program director for the ACGME accredited medical genetics residency program and am a member of the ABMG. I completed my Pediatric Residency at St. Louis Childrens Hospital/Washington University and clinical genetics training in the Metropolitan Washington DC Medical Genetics Residency Program. My first faculty position was at the University of Texas Health Science Center in Houston in the Division of Medical Genetics/Department of Pediatrics. When not wearing a clinical or administrative hat, I am engaged in studying the neurogenetic disorder tuberous sclerosis complex or working on new gene discovery projects.

Research Interests

My primary interest is the autosomal dominant disorder tuberous sclerosis complex (TSC), a neurogenetic disorder affecting 1/6000 people. TSC causes substantial morbidity and mortality due to seizures, intellectual disability, and autism spectrum disorders (ASD). We have developed several mouse models of TSC that we have used to study the pathophysiology, as well as test novel treatment strategies. We are especially interested in the association of TSC and ASD, and are trying to elucidate some of the important pathways that are common to both disorders. Such strategies might reveal new targets for pharmacotherapy.

I also have a keen interest in identifying new Mendelian neurodevelopmental disorders using whole exome sequencing (WES) in our clinical molecular laboratory (http://genetics.emory.edu/egl/). We have formed a personal genomic medicine group that collects and reviews cases for WES. Our rich clinical population has already provided a number of cases that we are currently sequencing.

Academic Appointment

• Professor and Vice Chair, Human Genetics, Emory University
• Professor with Tenure, Emory School of Medicine

Education

Research