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Senior Investigator

Andrew Singleton, Ph.D.

Laboratory of Neurogenetics
Building 35 Room 1A1014
35 Convent Drive
Bethesda MD 20892-3707
Office: (301) 451-6079

Fax: (240) 539-1326

Dr. Singleton received his B.S. degree from the University of Sunderland and his Ph.D. from the University of Newcastle upon Tyne, where he studied genetic causes and contributors to dementia. Dr. Singleton did postdoctoral training at the Mayo Clinic in Jacksonville Florida, studying the genetic basis of neurological diseases such as dystonia, ataxia, essential tremor and Parkinson's disease. In 2001 he joined the NIA as an Investigator within the newly created Laboratory of Neurogenetics. In 2007 Dr. Singleton became a Senior Investigator within NIA. Dr. Singleton was selected for the NIH Director's award in 2008. Dr. Singleton serves on the editorial board of Annals of Neurology, Neurogenetics and Neurodegenerative Diseases and is a member of the Scientific Advisory board for the Michael J Fox Foundation for Parkinson's Disease Research, the Dystonia Medical Research Foundation and the Lewy Body Dementia Association. Dr. Singleton's group investigates the genetic and cellular mechanisms underlying simple-Mendelian and complex neurological diseases.

Dr. Singleton's laboratory works on the genetic basis of neurological disorders including Parkinson's disease, dystonia, ataxia, dementia, and amyotrophic lateral sclerosis. This research is performed using a variety of methodologies, including family based linkage and positional cloning in addition to genome-wide association. The goal of Dr. Singleton's research is to identify genetic variability that causes or contributes to neurological disease in order to facilitate understanding of the molecular processes underlying disease.

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  • Taura Barr, B.S.
    Graduate Student

  • Jose Bras, M.S.
    Graduate Student

  • Angela Britton, M.S.

  • Rita Guerreiro, M.S.
    Graduate Student

  • Dena Hernandez, M.S.

  • Janel Johnson, B.Sc.
    Graduate Student

  • Joyce Leemput, M.S.
    Graduate Student

  • Maria Matarin, Ph.D.
    Research Fellow

  • Mike Nalls
    Postdoctoral Fellow

  • Sonja Scholz, M.D.
    Research Fellow

  • Jennifer Schymick, B.S.
    Graduate Student

  • Javier Simon-Sanchez, B.Sc.
    Graduate Student

  • Nicole Washecka, B.S.

  • Ryan Zonozi
    Postbaccalaureate IRTA

  • 1) Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung H-C, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez D, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB (2008)
  • Genotype, haplotype, and copy number variation in worldwide human populations.
  • Nature, 451, 998-1003
  • 2) Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB (2008)
  • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress response protein prkra.
  • Lancet Neurology, 7, 207-215
  • 3) Simon-Sanchez J, Scholz S, Fung H-C, MatarinM, Hernandez D, Gibbs JR, Britton A, Wavrant de Vrieze F, Peckham E, Gwinn-Hardy K, Crawley A, Keen J, Nash J, Borgaonkar D, Hardy J and Singleton A (2007)
  • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
  • Human Molecular Genetics, 16, 1-14
  • 4) van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung H-C, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Rafferty I, Hardy J, Storey E, McKinlay Gardner RJ, Forrest SM, Fisher EMC, Russell JT, Cai H, Singleton AB (2007)
  • Deletion at ITPR1 underlies ataxia in mice and humans (SCA15).
  • PLoS Genetics, 6, e108
  • 5) Fung H-C, Scholz S, Matarin M, Simon-Sanchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun M, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Peckham E, Wavrant De Vrieze F, Gwinn-Hardy K, Hardy JA, Singleton AB (2006)
  • Genome Wide Genotyping in Parkinson's Disease and Neurologically Normal Controls; First Stage Analysis and Public Release of Data.
  • Lancet Neurology, 5, 911-16
  • 6) Clarimon J, Johnson J et al (2005)
  • Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period
  • Movement Disorders, 20, 887-890
  • 7) Nichols W, Pankratz N et al. (2005)
  • Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
  • Lancet, 365, 410-12
  • 8) Bras JM, Guerreiro RJ et al (2005)
  • G2019s dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
  • Movement Disorders
  • 9) Hernandez DG, Paisan-Ruiz C et al (2005)
  • Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
  • Annals of Neurology, 57, 453-456
  • 10) Paisan-Ruiz C, Jain S et al (2004)
  • Cloning of the gene that Causes PARK8 linked Parkinson's disease
  • Neuron
  • 11) Paisán-Ruίz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Martínez Gil A, Khan N, Johnson J, Ruiz Martinez J, Nicholl D, Marti Carrera I, Saénz Peňa A, de Silva R, Lees A, Félix Martí-Massó J, Pérez-Tur J, Wood NW and Singleton AB (2004)
  • Cloning of the gene containing mutations that cause PARK-8 linked Parkinson’s disease.
  • Neuron, 44, 595-600
  • 12) Singleton A et al (2003)
  • alpha-synculein locus triplication causes Parkinson's disease
  • Science
  • 13) Hardy J, Cookson MR, Singleton A. (2003)
  • Genes and parkinsonism
  • Lancet Neurology, 2, 221-224
  • 14) Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. (2003)
  • Mutation at the SCA17 locus is not a common cause of parkinsonism.
  • Parkinsonism Relat Disord., 9, 317-320
  • 15) Eerola J, Hernandez D, Launes J, Hellstrom O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. (2003)
  • Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.
  • Neurology, 61, 1000-1002
  • 16) Hardy J, Singleton A, Gwinn-Hardy K. (2003)
  • Ethnic differences and disease phenotypes
  • Science, 300, 739-740
  • 17) Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003)
  • Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
  • Annals of Neurology, 54, 271-274
  • 18) Payami H, Nutt J, Gancher S, Bird T, Gonzales McNeal M, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton A, Singleton AB, Hardy J, Farrer M. (2003)
  • SCA2 may present as levodopa-responsive parkinsonism
  • Movement Disorders, 18, 425-429
  • 19) Hardy J, Singleton A, Gwinn-Hardy K (2003)
  • Ethnic Differences and Disease Phenotypes
  • Science, 300, 739-740
  • 20) Hardy J, Cookson M and Singleton A (2003)
  • Genes and Parkinsonism
  • Lancet Neurology, 2, 221-228
  • 21) Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J and Gwinn-Hardy K (2003)
  • a-Synuclein Locus Triplication Causes Parkinson Disease.
  • Science, 302, 841
  • 22) Subramony SH et al (2002)
  • Ethnic Differences in the Expression of Neurodegenerative Disease: Machado-Joseph Disease in Africans and Caucasians
  • Movement Disorders , 17, 1068-71
  • 23) Evidente VGH et al. (2002)
  • X-linked dystonia (‘Lubag’) presenting predominantly with parkinsonism: A more benign phenotype?
  • Movement Disorders, 17, 200-202
  • 24) Gwinn-Hardy et al (2001)
  • Spinocerebellar ataxia type 3 in blacks presenting as Parkinson's disease. Archives of Neurology
  • Archives of Neurology , 58, 296-299
  • 25) Farrer et al (2001)
  • alpha-Synuclein Gene Haplotypes are Associated with Parkinson’s Disease
  • Human Molecular Genetics, 10, 1847-1851
  • 26) Hardy J, Singleton A (2000)
  • The Future of Genetic Analysis of Neurological Disorders
  • Neurobiology of Disease , 7, 65-69
  • 27) Singleton et al. (2000)
  • Pathological Phenotype of Familial Early Onset Alzheimer’s Disease Cases Bearing an Insertion Mutation Thr113-114ins in the Presenilin-1 Gene
  • Brain, 123, 2467-74
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