The Manton Center for Orphan Disease Research
Pankaj Agrawal, MD, MMSc
Dr. Agrawal is the Principal Investigator for The Manton Center's Gene Discovery Core. He is in charge of overseeing participant recruitment and data flow for the Core. Dr. Agrawal's personal research is focused on identifying genetic and molecular basis of congenital myopathies that include nemaline myopathy (NM) and multiminicore disease (MMD). Working in the Beggs' Laboratory, he recently identified cofilin-2 gene (CFL2) to be mutated in two siblings with NM. His research interests also include finding new genes that when mutated cause rare disorders in neonates/early infants. Clinically, Dr. Agrawal cares for patients in Children's Hospital's Neonatal Intensive Care Unit.