Photo of Susan J. Hayflick, M.D.

Susan J. Hayflick M.D.

  • (503) 494-7703
    • Professor of Molecular and Medical Genetics School of Medicine
    • Professor of Pediatrics School of Medicine
    • Professor of Neurology School of Medicine
    • Chair Molecular and Medical Genetics School of Medicine
    • Interim Chair Biochemistry and Molecular Biology School of Medicine
    • Molecular and Medical Genetics Graduate Program School of Medicine
    • Program in Molecular and Cellular Biosciences School of Medicine

For nearly 30 years, Dr. Hayflick has studied a group of rare neurodegenerative disorders associated with brain iron accumulation. Her team, in collaboration with leading scientists from around the world, discovered the genetic underpinnings for PKAN, PLAN/INAD, BPAN, FAHN, MePAN, and several related disorders. They developed the first clinical tests, advanced understanding of basic disease biology, contributed key research resources, including animal models, and continue to drive rational therapeutics development in the NBIA disorders. Her research team spans from the bench to the bedside and beyond to the patient and family community. As a physician-scientist, Hayflick is deeply committed to the patients and families in the global NBIA community, working to improve their lives and relieve their suffering as a guiding force in her work.

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Education

  • M.D., The Pennsylvania State University College of Medicine, Hershey Pennsylvania United States 1985
  • Residency:

    • Internship and Residency in Pediatrics, The Maine Medical Center, Portland Maine, 1988
  • Fellowship:

    • Postdoctoral Fellowship in Medical Genetics, The Center for Medical Genetics, The Johns Hopkins Hospital, Baltimore Maryland, 1991
  • Certifications:

    • National Board of Medical Examiners, 1988
    • ABMGG-certified in Clinical Genetics, 1991
    • ABMGG-certified in Biochemical and Molecular Genetics, 1991

Memberships and associations

  • American Society of Human Genetics
  • Movement Disorders Society
  • American College of Medical Genetics, Founding member

Publications

  • "hGFRα-4" Pediatric Neurology  2001
  • "Mechanisms of accumulation of tyramine, metaraminol, and isoproterenol in isolated chromaffin granules and ghosts" Biochemical Pharmacology March 1 1982
  • "Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration" Proceedings of the National Academy of Sciences of the United States of America April 13 2010
  • "Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration" Brain April 2011
  • "Mutations in PLA2G6 and the riddle of Schindler disease." Journal of Medical Genetics January 2007
  • "Erratum" Nature Genetics August 2006
  • "Medical school core curriculum in genetics [6]" American Journal of Human Genetics  1995
  • "Progressive dystonia in a 12-year-old boy" European Journal of Paediatric Neurology  2003
  • "Neurofibromatosis 1" Pediatric Dermatology  1990
  • "Pantothenate kinase-associated neurodegeneration" Human Molecular Genetics December 2012
  • "Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)" American Journal of Ophthalmology August 2005
  • "Phase unwrapping and background correction in MRI"   2008
  • "T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation" Neurology April 2008
  • "Neurodegeneration associated with genetic defects in phospholipase A2" Neurology October 28 2008
  • "Introduction" Seminars in Pediatric Neurology September 2006
  • "Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation" Movement Disorders September 2013
  • "Unraveling the Hallervorden-Spatz syndrome" Current Opinion in Pediatrics December 2003
  • "The challenge of integrating genetic medicine into primary care" BMJ (Online) April 28 2001
  • "Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration" Journal of Inherited Metabolic Disease June 2007
  • "Postmortem molecular screening in unexplained sudden death" Journal of the American College of Cardiology May 5 2004
  • "PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration [2]" American Journal of Neuroradiology May 2006
  • "Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration" Movement Disorders January 2004
  • "Defective pantothenate metabolism and neurodegeneration" Biochemical Society Transactions  2014
  • "Gene symbol" Human Genetics July 2006
  • "Neurodegeneration With Brain Iron Accumulation" Seminars in Pediatric Neurology September 2006
  • "Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign [1]" Pediatric Radiology December 2006
  • "Characterization of the human PANK2 promoter" Gene October 2010
  • "PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron" Nature Genetics July 2006
  • "PLA2G6-associated neurodegeneration (PLAN)" Molecular Genetics and Metabolism  2014
  • "Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Δ7-reductase activity in chorionic villi" Prenatal Diagnosis  2000

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