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Molecular Genetics Section

Andrew Singleton, Ph.D., Chief

The Molecular Genetics Section (MGS) of the Laboratory of Neurogenetics works on the identification of genetic variants that cause and contribute to both simple and complex neurological diseases. The MGS works across varied neurodegenerative diseases including most prominently Parkinson's disease but also ataxia, dementia with Lewy bodies, frontotemporal dementia, and rare orphan syndromes.
The MGS uses a combination of state of the art genetics and genomics approaches. Further the MGS has acted as a catalyst for the creation of large collaborative consortia aimed at dissecting the genetic basis of common complex diseases.

Portfolio/Research Areas

  • Molecular Genetics
  • Genomics
  • Methylation
  • Expression
  • Risk Prediction
  • Parkinson's disease
  • Ataxia
  • Dystonia
  • Dementia

Findings and Publications

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, Gwinn-Hardy K. Alpha-Synuclein locus triplication causes Parkinson’s disease. Science. 2003 Oct 31;302(5646):841. PMID: 14593171

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Cloning of the gene containing mutations that cause PARK8-linked Parkinson’s disease. Neuron. 2004 Nov 18;44(4):595–600. PMID: 15541308

International Parkinson’s Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2). A two-stage meta-analysis identifies several new loci for Parkinson’s disease. PLoS Genet. 2011 Jun;7(6):e1002142. PMCID: PMC3128098

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 JPA, 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 Sep;46(9):989–993. PMCID: PMC4146673

Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CAM, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JPA, Singleton AB, Parkinson’s Disease Biomarkers Program and Parkinson’s Progression Marker Initiative investigators*. Diagnosis of Parkinson’s disease on the basis of clinical and genetic classification: a population-based modelling study. Lancet Neurol. 2015 Aug 10; PMID: 26271532