Pediatric Clinical Chemistry with an emphasis on inborn errors of metabolism. Director of a full service metabolic disease laboratory.
1. Define genetic defects of mitochondrial fatty acid oxidation, identify diagnostic biomarkers and study intramitochondrial compartmentalization of matrix proteins
2. Study basic elements of neuronal death in neuronal ceroid-lipofuscinosis ( Batten disease) and develop an animal model to test therapies to prevent neuronal death
Disorders of mitochondrial fatty acid oxidation with an emphasis on control of insulin secretion by short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The Neuronal-Ceroid Lipofuscinoses. A stufdy of the function of CLN3P, the protein responsible for Juvenile Batten Disease
- Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia (2004– present)
- PhD, Clinical Enzymology, University of Sheffield School of Medicine (1976)
- BSc, Physiology & Biochemistry, Reading University, UK (1972)