Return to list Pankaj Agrawal, MD
Pankaj Agrawal, MD
- Associate Professor of Pediatrics, Harvard Medical School
Boston Children's Hospital
300 Longwood Avenue
Boston, MA 02115
I am a neonatologist and a researcher interested in determining the genetic and molecular basis of various rare and ultra-rare diseases, many without a name or understanding of the condition with a goal to find appropriate therapies. One of my research areas is to determine the genetic basis of various congenital myopathies. I have identified several novel muscle genes including cofilin-2, titin and SPEG to be associated with nemaline and centronuclear myopathies. I am also the Medical Director and Principal Investigator of the Gene Discovery Core (GDC), Manton Center for Orphan Disease Research based at Boston Children’s Hospital, with research goals including enrollment of patients with orphan diseases, gene discovery using various approaches including whole exome/genome sequencing and return of those research results to families in a clinical setting.
- Speg Is Critical In Skeletal Muscle Development And Function - NIH/NIAMS R01AR068429