Neuroscience@NIH > Faculty

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
singleta@mail.nih.gov

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.

Taura Barr, B.S.
Graduate Student
Jose Bras, M.S.
Graduate Student
Angela Britton, M.S.
Biologist
Rita Guerreiro, M.S.
Graduate Student
Dena Hernandez, M.S.
Biologist
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.
Biologist
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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