Dr Alison Compton
professor
Genetics
Murdoch Childrens Research Institute
Australia
Biography
Dr Compton leads the Gene Discovery group in David Thorburn's lab and has established a substantial national and international profile in the field of mitochondrial disease gene discovery and incorporation of new technologies into genetic diagnosis. She has published 23 peer reviewed research papers predominantly on these topics. Of particular note are her joint first authored papers using Massively parallel sequencing for patient diagnosis in Nature Genetics (Oct 2010) and Science Translational Medicine (Jan 2012). Both these highly cited papers (176 and 155 citations in Scopus, respectively) received nomination by the Faculty of 1000, the Science Translational Medicine paper and was also named in January 2012 as the “Genome Advance of the Month" by National Institutes of Health. To date, Dr Compton's work has lead to the publication of 13 novel disease genes.
Research Interest
Genetics
Publications
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Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell metabolism. 2011 Sep 7;14(3):428-34.
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Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome. The American Journal of Human Genetics. 2010 Jul 9;87(1):52-9.
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Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature genetics. 2010 Oct 1;42(10):851-8.
