Rare disorders studied
- Neurodegeneration with brain iron accumulation (NBIA)
- Pantothenate kinase-associated neurodegeneration (PKAN)
- PLA2G6-associated neurodegeneration (PLAN)
- Infantile neuroaxonal dystrophy (INAD) / atypical neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration (MPAN)
- Beta-propeller Protein-associated Neurodegeneration (BPAN)
- Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN)
- COASY Protein-Associated Neurodegeneration (COPAN)
- Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN)
- Marfan syndrom (MFS)
- Weill-Marchesani syndrome (WMS)
Susan Hayflick completed medical school at the the Pennsylvania State University College of Medicine and did an internship and residency in pediatrics at the Maine Medical Center. She completed a postdoctoral fellowship in medical genetics at the Center for Medical Genetics at Johns Hopkins Hospital in Baltimore and joined Oregon Health & Science University in 1993. Dr. Hayflick is a professor of Molecular and Medical Genetics, Pediatrics, and Neurology at OHSU and is chair for the Department of Molecular and Medical Genetics. She serves as the Director of the OHSU Human Genetics Initiative and the Program Director for Human Genetics and Translational Technologies and Resources at the Oregon Clinical and Translational Research Institute.
Brain iron accumulates in many human neurodegenerative disorders, including Parkinson disease, Alzheimer disease and HIV encephalopathy. To investigate brain iron dyshomeostasis, we study a group of rare, single gene disorders, called Neurodegeneration with Brain Iron Accumulation (NBIA). Our NBIA research has identified the first two major genes for this disorder: PANK2, which encodes a key regulatory enzyme in the biosynthesis of coenzyme A, and PLA2G6, which encodes a phospholipase A2. Both are critical in maintaining membrane integrity. Our studies of PANK2 and its protein product currently focus on cellular localization, processing and distribution in both wild type and mutant tissue. We are exploring the genetic and biochemical perturbations in this form of NBIA, called pantothenate kinase-associated neurodegeneration (PKAN), investigating the mechanism by which this enzymatic defect leads to high brain iron and other phenotypic features, delineating the range of human neurologic disease associated with this pathway, and developing rational therapies, based on the gene discovery. Similar studies are underway on PLA2G6, identified in 2006 as the causative gene for Infantile Neuroaxonal Dystrophy (INAD). Murine KO models of both disorders have been developed to serve as a resource for genetic, biochemical, radiographic, electrophysiological, and clinical studies. We collaborate with labs both at OHSU and other academic institutions, including UCSF, Stanford and the University of Birmingham.
Rare disorders activities
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) NIH, Bethesda, MD
Online reviews and articles of interest
- Pantothenate kinase-associated neurodegeneration (GeneReview)
- Infantile neuroaxonal dystrophy (GeneReview)
- Neurodegeneration with brain iron accumulation (Orpha.net)
- Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006;38(7):752-4
- Gregory A, Westaway SK, Holm IE, et al. Neurodegeneration associated with genetic defects in phospholipase A2. Neurology 2008; ePub ahead of print Sept. 17, 2008. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348(1):33-40.
- Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden- Spatz syndrome. Nat Genet 2001;28(4):345-9.
- Gregory A, Polster BJ, Hayflick SJ. Genetic and clinical delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009;46(2):73-80