Anne M. Bowcock, Ph.D. Professor Genetics Pediatrics Internal Medicine Human and Statistical Genetics Program Molecular Genetics and Genomics Program Immunology Program
Office Phone: 314-747-3264 Lab Phone: 314-747-1057 Other Phone: FAX: 314-747-2489 Box: 8232 Lab Address: 331 Biotechnology Building Email: bowcock@wustl.edu Website: http://hg.wustl.edu/bowcock Keywords: autoimmunity; cancer; complex disease; functional genomics; obesity; systems biology Short Research Description: Genetics and Genomics approaches to human disease
Research Abstract: We are interested in the underlying genetic basis of human disease. Diseases under investigation in our lab include the common inflammatory diseases of the skin and joints, psoriasis and psoriatic arthritis. We are also investigating molecular changes in cancer. To accomplish our goals we perform global genetic and genomic analyses. To indentify causative genetic variants/genetic risk factors we perform genome-wide association studies. We then perform follow up studies to identify the causative variant with second-generation sequencing (NexGen). We are also searching for structural DNA variation as a cause of disease in patients. Finally we are re-sequencing of coding sequence (exomes) of patients to identify rare variants/mutations responsible for disease. We also perform functional genomic analyses to follow up disease associations. This includes an investigation of transcription factor binding sites with chromatin immunoprecipiation followed by NexGen sequencing (Chip-Seq). To examine the systems biology of disease states we are identifying altered mRNAs, and small non-coding RNAs (including microRNAs) and modeling the altered networks. Effects on the epigenome in disease are also being investigated with genome-wide methylation studies followed by precise mapping of altered methylation sites. As a follow up to our genetic analyses of the genetic disorder, lipodystrophy which leads to absence of body fat, we are examining the disrupted molecular pathways in adipocyte differentiation.
Selected Publications: Council ML, Gardner JM, Helms C, Liu Y, Cornelius LA, Bowcock AM. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. Exp Dermatol. 2009 18:485-7. Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR; Collaborative Association Study of Psoriasis. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009 41:199-204. deCid R, Riveira-Munoz E, Zeeuwen PLJM, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramis G, Ballana E, Martin-Ezquerra G, den heijer M, Kamsteeg M, Joosten I, Eichler EE, Lazaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JAL, Kowk P, Bowcock AM, Schalkwijk J and Estivill X. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat. Genet. 2009 41:211-215 Onken MD, Worley LA, Long MD, Duan S, Council ML, Bowcock AM, Harbour JW. Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci. 2008 49:5230-4. Liu Y, Helms C, Liao W, Zaba LC, Duan S, Gardner J, Wise C, Miner A, Malloy MJ, Pullinger CR, Kane JP, Saccone S, Worthington J, Bruce I, Kwok PY, Menter A, Krueger J, Barton A, Saccone NL, Bowcock AM. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 2008 4:e1000041.

Last Updated: 09/11/2009