Dr Shaun Purcell
Assistant Professor in Psychiatry, Harvard University
Fundamentally based upon the development of statistical and computational tools for the design of genetic studies, Dr. Purcell's work ultimately facilitates the detection of gene variants influencing complex human traits and the dissection of these effects in the larger context of other genetic and environmental factors. Upon completing a 2-year visiting postdoc with Dr. Mark Daly at the Whitehead Institute for Biomedical Research at MIT (Dr. Daly currently directs the CHGR Analytics and Translational Genetic Unit), Dr. Purcell joined the Psychiatric and Neurodevelopmental Genetics Unit (PNGU) of the Massachusetts General Hospital Center for Human Genetic Research (CHGR) in January 2005. Prior to relocating to the Boston area to establish his analytical research program, Dr. Purcell earned a Ph.D. with Professor Pak Sham at King's College London, UK in 2003. Dr. Purcell's specific methodological projects include: developing methods for the analysis of large scale association studies; studying gene-gene interaction (epistasis) and gene-environment interaction; detecting population stratification using genetic marker information; developing software for haplotype analysis; developing online resources for power calculation and simple genetic association analyses. Dr. Purcell collaborates with a number of clinical investigators both within the CHGR and internationally, working on a range of neuropsychiatric diseases including schizophrenia and bipolar disorder. In 2007, Dr. Purcell developed the software package PLINK, which is widely used for genome-wide association studies (with over 2,000 citations), and has recently received a NHGRI R01 award for the continued development of this tool, specifically to expand this tool onto a broader platform for the analysis of next-generation sequencing studies (PLINK/Seq, http://atgu.mgh.harvard.edu/plinkseq/). Further to this important analytic work, Dr. Purcell has led the design and analysis of some of the largest genome-wide studies of schizophrenia and bipolar disorder to date. His leadership of the analysis of the International Schizophrenia Consortium resulted in two Nature manuscripts (2008, 2009) describing the role of rare structural variation and common single nucleotide polymorphisms in a sample of over 7,000 individuals. Dr. Purcell was also the PI for the bipolar disorder component of the Psychiatric GWAS Consortium's U01 program grant – work that recently culminated in a publication in Nature Genetics of over 17,000 individuals. Additionally, he is one of two multi-PI's for a ARRA R01 funding for whole-exome sequencing in hundreds of schizophrenia patients and controls. In recognition of his groundbreaking work in statistical genetics and neuropsychiatric genetics, Dr. Purcell was awarded the International Society for Psychiatric Genetics annual Ted Reich award, for outstanding research by an investigator under 40, and is regularly invited to speak at international meetings and workshops. Dr. Purcell has embarked upon a number of important collaborations with MGH faculty, most notably in Psychiatry (Pamela Sklar, Roy Perlis, David Pauls, Jordan Smoller) but also Medicine (Mark Daly, David Altshuler, on various genetics studies; Sekar Kathiresan, on a GWAS of early-onset myocardial infarction), neurology (Robert Brown, ALS genetics; Steve Haggarty, on following up emerging neuropsychiatric candidate genes via iPS cell and other functional approaches) and the Martinos Center for Biomedical Imaging (Randy Buckner, on a large scale genetic study of brain imaging phenotypes in healthy individuals, with Jordan Smoller and Joshua Roffman (Psychiatry).
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