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cancer, complex disease, psoriasis, microRNA, functional genomics, systems biology

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331 Biotechnology Building



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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 and a particularly virulent cancer of the eye (uveal melanoma). We use genetic and genomic approaches such as genome-wide association studies, genetic linkage analysis, exome capture, targeted capture, and Next Generation sequencing to achieve our goals. To examine the systems biology of disease states we are using Next Generation sequencing to identify differentially expressed mRNAs and 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. We recently identified a metastasis for suppressor for melanoma of the eye (BRCA1 associated protein or BAP1). We are continuing to investigate the genetic basis of this cancer with NexGen approaches including exome capture, RNASeq and whole genome sequencing. We are also screening for rare variants contributing to complex disease with NexGen sequencing approaches. Once identified we perform population-based screening of novel variants and statistical analyses to obtain evidence for their roles in disease. We also perform cell biology/functional genomic analyses to investigate the roles of the novel genes and how the novel variant contribute to disease states.

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Anne M. Bowcock

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Genetics and Genomics approaches to human disease

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Date Last Updated

11/10/2011 3:01 PM


Lee H-Y, Huang Y, Bruneau N, Roll P, Roberson EDO, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee W-L, Lynch,DR, Mohamed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu Y-H, Ptacek L.  Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 2010 (In Press). 
Landreville S, Agapova OA, Matatall KA, Kneass ZT, Onken MD, Lee RS, Bowcock AM, Harbour JW.  Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin. Cancer Res. 2011 (In Press).  PMID:22038994
Roberson EDO, Liu Y, Ryan C, Joyce CE, Duan S, Cao L, Martin A, Liao W, Menter A, Bowcock AM.  A subset of methylated CpG sites differentiate psoriatic from normal skin. J. Invest. Dermatol. 2011 (In Press).
Joyce CE, Zhou X, Xia J, Ryan C, Thrash B, Menter A, Zhang W, Bowcock AM.  Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome.  Hum. Molec. Genet. 2011 20:4025-40. PMID:21807764
Chen H, Poon A, Yeung C, Helms C, Pons J, Bowcock AM, Kwok PY, Liao W.  A genetic risk score combining ten psoriasis risk Loci improves disease prediction. PLoS One 2011 6: e19454. PMCID: 3084857
Harbour JW, Roberson E, Onken MD, Cao L, Worley LA, Duan S, Council ML, Helms C, Bowcock AM.  Inactivating BAP1 mutations occur in the majority of metastasizing uveal melanomas. Science 2010 330:1410-3. PMID: 21051595
Roberson ED, Bowcock AM.  Psoriasis genetics: breaking the barrier. Trends Genet. 2010 26:415-423 PMID: 2069271
Stuart PE, Nair RP, Ellinghaus E, Ding J, Tejasvi T, Gudjonsson JE, Li Y, Weidinger S, Eberlein B, Gieger C, Wichmann HE, Kunz M, Ike R, Krueger GG, Bowcock AM, Mrowietz U, Lim HW, Voorhees JJ, Abecasis GR, Weichenthal M, Franke A, Rahman P, Gladman DD, Elder JT.  Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat. Genet. 2010 42:1000-4 PMID: 20953189
Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH, Zhu QX, Zhou HS, Ellinghaus E, Zhang FR, Pu XM, Yang XQ, Zhang JZ, Xu AE, Wu RN, Xu LM, Peng L, Helms CA, Ren YQ, Zhang C, Zhang SM, Nair RP, Wang HY, Lin GS, Stuart PE, Fan X, Chen G, Tejasvi T, Li P, Zhu J, Li ZM, Ge HM, Weichenthal M, Ye WZ, Zhang C, Shen SK, Yang BQ, Sun YY, Li SS, Lin Y, Jiang JH, Li CT, Chen RX, Cheng J, Jiang X, Zhang P, Song WM, Tang J, Zhang HQ, Sun L, Cui J, Zhang LJ, Tang B, Huang F, Qin Q, Pei XP, Zhou AM, Shao LM, Liu JL, Zhang FY, Du WD, Franke A, Bowcock AM, Elder JT, Liu JJ, Yang S, Zhang XJ.  Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet. 2010 42:1005-9. PMID: 20953187
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 P, Menter A, Lathrop GM, Wise C, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR.  Genome-wide scan reveals association of psoriasis with IL-23 and NF-kB pathways. Nat. Genet. 2009 41:199-204 PMID:19169254

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Created at 11/10/2011 3:01 PM by DBBS_SP_SAPP
Last modified at 11/10/2011 4:11 PM by Kathryn Ruzicka