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.

Education

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

Publications

  • "The effects of noncoding aquaporin-4 single-nucleotide polymorphisms on cognition and functional progression of Alzheimer's disease." Alzheimer's and Dementia: Translational Research and Clinical Interventions In: , Vol. 3, No. 3, 01.09.2017, p. 348-359.
  • "Cyanide and the human brain : perspectives from a model of food (cassava) poisoning." Annals of the New York Academy of Sciences  In: , Vol. 1378, No. 1, 01.08.2016, p. 50-57.
  • "Reconstructability analysis of genetic loci associated with Alzheimer disease."   6th International Conference on Soft Computing and Intelligent Systems, and 13th International Symposium on Advanced Intelligence Systems, SCIS/ISIS 2012. 2012. p. 2104-2110 6505196.
  • "Alzheimer disease pathology in cognitively healthy elderly : A genome-wide study." Neurobiology of Aging  In: , Vol. 32, No. 12, 12.2011, p. 2113-2122.
  • "Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease." Circulation: Cardiovascular Genetics In: , Vol. 4, No. 4, 08.2011, p. 397-402.
  • "Microcephaly genes and risk of late-onset Alzheimer disease." Alzheimer Disease and Associated Disorders  In: , Vol. 25, No. 3, 07.2011, p. 276-282.
  • "Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse." Molecular Genetics and Metabolism In: , Vol. 101, No. 2-3, 10.2010, p. 292-295.
  • "Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases." Statistical Applications in Genetics and Molecular Biology  In: , Vol. 9, No. 1, 18, 2010.
  • "Infantile neuroaxonal dystrophy : What's most important for the diagnosis?" European Journal of Paediatric Neurology  In: , Vol. 12, No. 6, 11.2008, p. 491-500.
  • "Neurodegeneration associated with genetic defects in phospholipase A2." Neurology In: , Vol. 71, No. 18, 28.10.2008, p. 1402-1409.
  • "Mutations in PLA2G6 and the riddle of Schindler disease." Journal of Medical Genetics In: , Vol. 44, No. 1, 01.2007.
  • "Pantothenate kinase 2 mutation without 'eye-of-the-tiger' sign [1]." Pediatric Radiology  In: , Vol. 36, No. 12, 12.2006, p. 1329.
  • "Erratum : PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron (Nature Genetics (2006) 38 (752-754))." Nature Genetics In: , Vol. 38, No. 8, 08.2006, p. 957.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 679.
  • "PLA2G6, encoding a phospholipase A , is mutated in neurodegenerative disorders with high brain iron." Nature Genetics In: , Vol. 38, No. 7, 07.2006, p. 752-754.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 678.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 671-672.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 677.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 672.
  • "Gene symbol : PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN)." Human Genetics In: , Vol. 119, No. 6, 07.2006, p. 673.
  • "A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : Evidence for a founder effect." Neurogenetics In: , Vol. 6, No. 4, 12.2005, p. 201-207.
  • "Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)." American Journal of Ophthalmology In: , Vol. 140, No. 2, 08.2005.
  • "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration." Movement Disorders In: , Vol. 20, No. 7, 07.2005, p. 819-821.
  • "Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia." Human Molecular Genetics  In: , Vol. 14, No. 1, 01.01.2005, p. 49-57.
  • "Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration." Annals of the New York Academy of Sciences In: , Vol. 1012, 2004, p. 282-298.
  • "Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome." New England Journal of Medicine  In: , Vol. 348, No. 1, 02.01.2003, p. 33-40.
  • "Erratum : Letter to the editor (International Journal of Biochemistry and Cell Biology (2002) 34 (109-115) PII: S1357272501001145)." International Journal of Biochemistry and Cell Biology In: , Vol. 34, No. 12, 01.12.2002, p. 1629.
  • "In reference to the Short Communication published by Ni et al." The international journal of biochemistry & cell biology In: , Vol. 34, No. 12, 12.2002, p. 1629.
  • "Enhanced expression and HIV- 1 inhition of chimeric tRNALys3-Ribozymes under dual U6 snRNA and tRNA promoters." Molecular Therapy In: , Vol. 6, No. 4, 01.10.2002, p. 481-489.
  • "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration." Neurology In: , Vol. 58, No. 11, 11.06.2002, p. 1673-1674.

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