Photo of Shawn Westaway, Ph.D.

Shawn Westaway Ph.D.

  • (503) 494-4362
    • Research Assistant Professor of Neurology School of Medicine
    • Neuroscience Graduate Program School of Medicine

My research interests center around the genetic variation associated with Alzheimer disease and other neurodegenerative disorders. I am currently funded as Principal Investigator to carry out a research project directed at identifying the genetic variation seen in two alternatively spliced isoforms of the ITSN1 gene which may be responsible for the upregulation in gene expression seen in Alzheimer brain.I also have research interests which encompass 1) the genetics of Alzheimer disease, common neurological disorders, and rare inherited neurodegenerative diseases as studied by OHSU’s Alzheimer Disease Center and the Rare Disorders Research Consortium; 2) SNP discovery, transcriptome analysis, linkage mapping, and an inflammatory phenotype project in the Rhesus macaque; 3) linkage mapping and causative genes in primary open angle glaucoma; and 4) the genetics of congenital heart defects, sudden cardiac death, long QT syndrome, coronary artery disease and other conditions related to the studies carried out at OHSU’s Cardiac Arrhythmia Center and the OHSU Heart Research Council. My interests in each of these fields extends to the genomics of the causative genes for these disorders or characteristics, including mouse models, human and mammalian SNP genotyping, gene expression microarray experiments and software analysis; other human mutation, polymorphism and SNP studies; human and model organism gene expression, biochemistry and enzymology; and fly and yeast genetics and metabolism as related to human disease.


  • B.S., California State University, Northridge California 1984
  • Ph.D., California Institute of Technology, Pasadena California 1993


  • "Enhanced expression and HIV- 1 inhition of chimeric tRNALys3-Ribozymes under dual U6 snRNA and tRNA promoters" Molecular Therapy October 1 2002
  • "Mutations in PLA2G6 and the riddle of Schindler disease." Journal of Medical Genetics January 2007
  • "Erratum" Nature Genetics August 2006
  • "Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases" Statistical Applications in Genetics and Molecular Biology  2010
  • "Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)" American Journal of Ophthalmology August 2005
  • "Neurodegeneration associated with genetic defects in phospholipase A2" Neurology October 28 2008
  • "A chimeric tRNA(Lys3)-ribozyme inhibits HIV replication following virion assembly." Nucleic acids symposium series  1995
  • "Deletion analysis of a multifunctional yeast tRNA ligase polypeptide" Journal of Biological Chemistry April 25 1991
  • "Alzheimer disease pathology in cognitively healthy elderly" Neurobiology of Aging December 2011
  • "Gene symbol" Human Genetics July 2006
  • "Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign [1]" Pediatric Radiology December 2006
  • "PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron" Nature Genetics July 2006
  • "Infantile neuroaxonal dystrophy" European Journal of Paediatric Neurology November 2008
  • "A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration" Neurogenetics December 2005
  • "Nucleotide sequence of ORF2" Nucleic Acids Research November 11 1987
  • "Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse" Molecular Genetics and Metabolism October 2010
  • "Microcephaly genes and risk of late-onset Alzheimer disease" Alzheimer Disease and Associated Disorders July 2011
  • "Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia" Human Molecular Genetics January 1 2005
  • "Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome" New England Journal of Medicine January 2 2003
  • "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration" Neurology June 11 2002
  • "Gene symbol" Human Genetics July 2006
  • "Multiple nucleotide cofactor use by yeast ligase in tRNA splicing" Journal of Biological Chemistry February 5 1993
  • "Virion encapsidation of tRNA3(Lys)-Ribozyme chimeric RNAs inhibits HIV infection" Nucleic Acid Therapeutics  1998
  • "Novel activity of a yeast ligase deletion polypeptide" Journal of Biological Chemistry February 5 1993
  • "Gene symbol" Human Genetics July 2006
  • "Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease" Circulation. Genomic and precision medicine August 2011
  • "Gene symbol" Human Genetics July 2006
  • "Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration" Annals of the New York Academy of Sciences  2004
  • "Gene symbol" Human Genetics July 2006
  • "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration" Movement Disorders July 2005

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