Photo of Susan J. Hayflick, M.D.

Susan J. Hayflick M.D.

  • (503) 494-7703
    • Professor of Molecular and Medical Genetics School of Medicine
    • Molecular and Medical Genetics Graduate Program School of Medicine
    • Program in Molecular and Cellular Biosciences School of Medicine

Dr. Hayflick was presented with the 2009 OHSU School of Medicine Annual Dean’s Award from the Alumni Association in recognition of her exceptional service to the School of Medicine as an outstanding scientist, active lecturer, prolific publisher and a valued citizen of the OHSU School of Medicine community. Dr. Hayflick’s work has led to the identification of the gene defect responsible for two completely separate brain degeneration disorders. Dr. Hayflick has shown dedication to improving the climate for faculty in the School of Medicine, encouraging women in leadership roles. Under Dr. Hayflick’s watchful encouragement, women faculty representation on all committees—the primary governing bodies of the School of Medicine and a key mechanism for advancement—has grown from 26 to 45% in just five years. She is also a: national leader in genetics education in primary care, lecturer in pediatric resident, lecture series, lecturer in medical student course, cell structure and function, lecturer in molecular and medical genetics grand rounds.


  • 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:

    • National Board of Medical Examiners, 1988

Memberships and associations

  • American Society of Human Genetics


  • "Looking deep into the eye-of-the-tiger in pantothenate kinase-associated neurodegeneration." American Journal of Neuroradiology In: , Vol. 39, No. 3, 01.03.2018, p. 583-588.
  • "De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities." Human Genetics  In: , Vol. 137, No. 3, 01.03.2018, p. 257-264.
  • "Neurodegeneration with brain iron accumulation."   Handbook of Clinical Neurology. Elsevier B.V., 2018. p. 293-305 (Handbook of Clinical Neurology; Vol. 147).
  • "Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies." Molecular Genetics and Metabolism In: , 01.01.2018.
  • "Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency." Scientific Reports In: , Vol. 7, No. 1, 11260, 01.12.2017.
  • "Changes in Red Blood Cell membrane lipid composition : A new perspective into the pathogenesis of PKAN." Molecular Genetics and Metabolism  In: , Vol. 121, No. 2, 01.06.2017, p. 180-189.
  • "MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder." American Journal of Human Genetics  In: , Vol. 99, No. 6, 01.12.2016, p. 1229-1244.
  • "Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)." Molecular Genetics and Metabolism In: , 30.09.2016.
  • "Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia." Nature Communications In: , Vol. 7, 11601, 27.05.2016.
  • "Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy." American Journal of Human Genetics  In: , 17.05.2016.
  • "Novel WDR45 mutation and pathognomonic BPAN imaging in a young female with mild cognitive delay." Pediatrics  In: , Vol. 136, No. 3, 01.09.2015, p. e714-e717.
  • "Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis." Nature Chemical Biology  In: , Vol. 11, No. 10, 1906, 31.08.2015, p. 784-792.
  • "Neurodegeneration with Brain Iron Accumulation : Genetic Diversity and Pathophysiological Mechanisms." Annual Review of Genomics and Human Genetics In: , Vol. 16, 24.08.2015, p. 257-279.
  • "Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus." Molecular Genetics and Metabolism In: , Vol. 116, No. 4, 2015, p. 289-297.
  • "Mutations in RAB39B cause X-linked intellectual disability and early-onset parkinson disease with α-synuclein pathology." American Journal of Human Genetics In: , Vol. 95, No. 6, 04.12.2014, p. 729-735.
  • "Modeling PKAN in Mice and Flies."   Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., 2014. p. 905-913.
  • "Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation." American Journal of Human Genetics  In: , Vol. 94, No. 1, 02.01.2014, p. 11-22.
  • "Defective pantothenate metabolism and neurodegeneration." Biochemical Society Transactions In: , Vol. 42, No. 4, 2014, p. 1063-1068.
  • "PLA2G6-associated neurodegeneration (PLAN) : Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease." Molecular Genetics and Metabolism In: , Vol. 112, No. 2, 2014, p. 183-189.
  • "Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin." European Journal of Paediatric Neurology  In: , Vol. 18, No. 4, 2014, p. 516-519.
  • "Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration." Molecular Genetics and Metabolism In: , Vol. 110, No. 3, 11.2013, p. 336-341.
  • "Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation." Circulation Research In: , Vol. 113, No. 10, 25.10.2013, p. 1159-1168.
  • "Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis." PLoS One  In: , Vol. 8, No. 10, e76715, 03.10.2013.
  • "Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation." Movement Disorders In: , Vol. 28, No. 10, 09.2013, p. 1462-1463.
  • "Copy number variation analysis in 98 individuals with PHACE syndrome." Journal of Investigative Dermatology  In: , Vol. 133, No. 3, 03.2013, p. 677-684.
  • "Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis : A pathogenic link with pantothenate kinase-associated neurodegeneration?" Neurology India  In: , Vol. 61, No. 2, 03.2013, p. 169-170.
  • "New NBIA subtype : Genetic, clinical, pathologic, and radiographic features of MPAN." Neurology In: , Vol. 80, No. 3, 15.01.2013, p. 268-275.
  • "BPAN. The Only X-Linked Dominant NBIA Disorder." International Review of Neurobiology In: , Vol. 110, 2013, p. 85-90.
  • "Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN). Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes." International Review of Neurobiology In: , Vol. 110, 2013, p. 49-71.
  • "Beta-propeller protein-associated neurodegeneration : A new X-linked dominant disorder with brain iron accumulation." Brain  In: , Vol. 136, No. 6, 2013, p. 1708-1717.

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