Ayesha Ahmad, M.D.
Evaluation of long term outcomes and best practice guidelines for management of patients with inborn errors of metabolism; and outcomes of patients with metabolic diseases detected pre-symptomatically by newborn screening.
Elizabeth Ames, M.D., Ph.D.
Developing biomarkers for inborn errors of metabolism and promoting novel therapeutics for the care of patients with rare diseases.
Mark Charles Hannibal, M.D., Ph.D.
Genetics of Kabuki Syndrome
Catherine E. Keegan, M.D., Ph.D.
Urogenital and caudal development, Telomere dysfunction and genomic instability.
Donna M. Martin, M.D., Ph.D.
Modeling epigenetic disorders to treat human disease.
Jess G. Thoene, M.D.
Role of aberrant apoptosis in causing the nephropathic phenotype in cystinosis.