Susan J. Hayflick

Dr. Susan J. Hayflick is a physician-scientist specializing in neurodegenerative disorders with a focus on brain iron accumulation (NBIA disorders). Her research team has identified genetic causes for PKAN, PLAN/INAD, BPAN, and related conditions, developed clinical diagnostic tools, and advanced therapeutic strategies. She holds an M.D. from The Pennsylvania State University College of Medicine (1985), completed pediatrics residency at Maine Medical Center (1988), and a clinical genetics fellowship at Johns Hopkins (1991). Certified in Clinical Genetics and Biochemical/Molecular Genetics, she is a founding member of the American College of Medical Genetics and actively contributes to global NBIA patient advocacy.

Her research interests include genetic underpinnings of NBIA disorders, translational therapeutics, and clinical management guidelines. Key contributions include mouse model development for PKAN and coenzyme A metabolism studies. She collaborates internationally and leads initiatives to bridge basic science, clinical care, and patient communities. Her work emphasizes patient-centered approaches to improve outcomes for NBIA families.

Publications span molecular mechanisms, clinical trials, and diagnostic advancements, reflecting her interdisciplinary approach. She is affiliated with The Spoonbill Foundation and collaborates on projects like RNA sequencing for Mendelian disease diagnostics. Current efforts focus on therapeutic development, including deferiprone trials and 4'-phosphopantetheine as a dietary therapy.