I received my PhD in Biology from the Russian Academy of Science. My study focused on the role of autoimmune components in the development of neurodegenerative disorders, with a particular focus on viliuysky encephalomyelitis and spinocerebellar ataxia type 1, which spread in Siberia.
In 2001 I was granted a postdoctoral research fellowship at the Clinical Neurogenetics Laboratory at the National Institute of Neurological Disorders and Stroke (NINDS/NIH, USA), where I conducted studies on movement and neuromuscular disorders including essential tremor, myofibrillar myopathies, Creutzfeldt-Jakob disease, spinocerebellar ataxias and gained extensive experience in techniques of molecular biology and genetics of mendelian and complex diseases.
From 2008 to 2023 I worked at the Department of Basic and Clinical Neuroscience at King’s College London. My interest was in understanding the contribution of genetic polymorphisms to development and progression of motor neuron disease (MND). The most important project I was involved led to the discovery one of the frequent MND gene, C9ORF72.
In collaboration with colleagues from the University of Cambridge and CIMR, I worked on whole-exome sequencing data of patients with a rare lysosomal disease, and this work led to the discovery of a new disease, mucopolysaccharidosis-plus syndrome, caused by a mutation in VPS33A.
My research interest focuses on understanding the role of genetic variations in complex and rare traits related to neurological conditions, and applying novel methods and related bioinformatic and statistical tools.
1996-1999: PhD in Biology, Siberian Branch of the Russian Academy of Science, Irkutsk, Russia.
Thesis: Autoimmune component in pathogenesis of progressive neurological disorders (Viliuisk Encephalomyelitis and Spinocerebellar Ataxia Type 1).
1985-1992: MS in Biology/Genetics, Tomsk State University, Department of Genetics, Russia.
- Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. The lysosomal disease caused by mutant VPS33A. Hum Mol Genet. 2019;28(15):2514-2530. doi:10.1093/hmg/ddz077. PMID: 31070736; PMCID: PMC6644154.
- van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016;48(9):1043-8. doi:10.1038/ng.3622. PMID: 27455348; PMCID: PMC5556360.
- Shatunov A, Mok K, Newhouse S, Weale ME, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010;9(10):986-94. doi:10.1016/S1474-4422(10)70197-6. PMID: 20801717; PMCID: PMC3257853.
- Shatunov A, Sambuughin N, Jankovic J, Elble R, et al. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain. 2006;129(Pt 9):2318-31. doi:10.1093/brain/awl120. PMID: 16702189.
- Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M, Goldfarb LG. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. Clin Genet. 2004;66(6):496-501. doi:10.1111/j.1399-0004.2004.00356.x. PMID: 15521976
A full list of my publications can be found at: