Andrew B. Singleton, Ph.D.

NIH Distinguished Investigator

Laboratory of Neurogenetics


Building 35, Room 1A1014
35 Convent Drive
Bethesda, MD 20814


Research Topics

In recent years, an extremely successful approach to understanding disease has arisen from the study of rare familial forms of disorders related to more common "sporadic" disease. This is a research paradigm that was successful in Alzheimer's disease (AD). The identification of the APP, PS-1 and PS-2 mutations as causal of rare forms of early-onset familial AD led to a huge increase in our knowledge of the pathogenic mechanisms underlying the common late-onset form of AD. We are applying this approach to a number of disorders. Lubag or X-linked recessive dystonia parkinsonism (XDP) is a rare inherited movement disorder; however, given the clinical phenotype associated with this disorder, delineation of the disease process in XDP will be informative for Parkinson's disease, dystonia and related movement disorders. We are currently involved in a positional cloning project aimed at identifying this gene defect.


Dr. Andrew Singleton is a human geneticist whose research interests focus on the genetics of neurological disease. Dr. Singleton received his B.Sc. (Hons) degree from the University of Sunderland, UK and his Ph.D. from the University of Newcastle upon Tyne, UK where he studied genetic causes and contributors to dementia. Dr. Singleton performed his postdoctoral training at the Mayo Clinic in Jacksonville, Florida, studying the genetic basis of neurological diseases such as dystonia, ataxia, essential tremor, dysautonomia, stroke and Parkinson's disease. In 2001 he joined the NIA as an Investigator within the newly created Laboratory of Neurogenetics. Dr. Singleton's group investigates the genetic and cellular mechanisms underlying simple-Mendelian and complex neurological diseases.

Selected Publications

  1. Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013;92(2):245-51.

  2. Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, International Parkinson's Disease Genomics Consortium (IPDGC)., Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI)., 23andMe., GenePD., NeuroGenetics Research Consortium (NGRC)., Hussman Institute of Human Genomics (HIHG)., Ashkenazi Jewish Dataset Investigator., Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE)., North American Brain Expression Consortium (NABEC)., United Kingdom Brain Expression Consortium (UKBEC)., Greek Parkinson's Disease Consortium., Alzheimer Genetic Analysis Group., Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014;46(9):989-93.

  3. Hernandez DG, Nalls MA, Gibbs JR, Arepalli S, van der Brug M, Chong S, Moore M, Longo DL, Cookson MR, Traynor BJ, Singleton AB. Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet. 2011;20(6):1164-72.

  4. Singleton A, Hardy J. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 2016;90(6):1154-1163.

  5. Chang D, Nalls MA, Hallgrímsdóttir IB, Hunkapiller J, van der Brug M, Cai F, International Parkinson's Disease Genomics Consortium., 23andMe Research Team., Kerchner GA, Ayalon G, Bingol B, Sheng M, Hinds D, Behrens TW, Singleton AB, Bhangale TR, Graham RR. A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Nat Genet. 2017;49(10):1511-1516.

This page was last updated on August 24th, 2018