Medical Genetics

Section Director, Medical Genetics: Rochelle Hirschhorn, MD

The Medical Genetics section is primarily involved in investigating the pathophysiology, molecular basis, and treatment of inherited disease, with a focus on the molecular genetics of glycogen storage disease type II and severe combined immunodeficiency (SCID).

The section's clinical activities include:

  • diagnosis and testing for the genetic abnormalities responsible for these diseases
  • counseling the physicians and, when appropriate, the family members caring for these patients
  • involvement in the development of therapeutic interventions

The section is also responsible for the training of medical students, residents, and fellows in the principles of medical genetics through courses, conferences, rounds, and electives.

The Medical Genetics Section's office and laboratories are located on the sixth floor of the Bellevue C and D Building.