Susan J. Hayflick, M.D.

Academic and Clinical Positions

Professor and Interim Chair

Professor

Biography

Dr. Hayflick sees clinical genetics patients on both an inpatient and outpatient basis, and she performs clinical laboratory professional interpretations (cytogenetics, biochemical genetics, and molecular genetics). She orders and/or performs clinical evaluations and diagnostic studies and advises the medical staff with regard to congenital malformations, birth defects, bone dysplasias and heritable syndromes, cytogenetic abnormalities, and genetic and/or inherited metabolic disorders. Rare disorders studied include neurodegeneration with brain iron accumulation (NBIA), pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy (INAD) / atypical neuroaxonal dystrophy, Marfan syndrome, and Weill-Marchesani syndrome.

Professional Education

• Degree:
  M.D., The Pennsylvania State University College of Medicine, Hershey, 1995
  
• Residency:
  Internship/Residency in Pediatrics, The Maine Medical Center, Portland, 1988
• Fellowship:
  Postdoctoral Fellowship in Medical Genetics, The Center for Medical Genetics, The Johns Hopkins Hospital, Baltimore, 1991

Certifications

• Certifications:
  National Board of Medical Examiners, 1988
  American Board of Pediatrics (re-certified), 1989, 1996
  American Board of Medical Genetics (clinical genetics), 1990
  American Board of Medical Genetics (biochemical and molecular genetics), 1990

Memberships and Associations

American Society of Human Genetics, American Association for the Advancement of Science,
American College of Medical Genetics (Founding Diplomat),
Society for Inherited Metabolic Disorders;
Director, Scientific and Medical Advisory Board,
NBIA Disorders Association; Member, Medical Advisory Board,
Hoffnungsbaum e.V. (German NBIA advocacy group);
Member, Scientific Advisory Board, Dystonia Medical Research Foundation; Program Chair and Meeting Organizer, “First Scientific Workshop on Hallervorden-Spatz Syndrome” (2000) and “Second Scientific Workshop on Neurodegeneration with Brain Iron Accumulation,” (2005), National Institutes of Health, Bethesda, MD.

Additional Information

Special Interest:

Clinical metabolic genetics

Cytogenetics laboratory test interpretation

Biochemical genetics laboratory test interpretation

Molecular genetics laboratory test interpretation