Stephen S. Rich
- Email: ssr4n@virginia.edu
- Phone: 434-243-7356
- Fax: 434-982-1815
Primary Appointment
Professor, Public Health Sciences
Education
- PhD, Genetics, Purdue University
Research Disciplines
Bioinformatics and Genomics, Biology, Cardiovascular Biology, Epigenetics, Genetics, Immunology, Translational Science
Research Interests
Genetic basis of common human disease, including type 1 diabetes, diabetic complications, ischemic stroke, atherosclerosis
Research Description
Personal Statement
Training
- Basic Cardiovascular Research Training Grant
- Global Infectious Disease Research Training Grant at UVa
Selected Publications
Guan M, Keaton JM, Dimitrov L, Hicks PJ, Xu J, Palmer ND, Ma L, Das SK, Chen YI, Coresh J, Fornage M, Franceschini N, Kramer H, Langefeld CD, Mychaleckyj JC, Parekh RS, Post WS, Rasmussen-Torvik LJ, Rich SS, Rotter JI, Sedor JR, Thornley-Brown D, Tin A, Wilson JG, Freedman BI, Bowden DW, Ng MCY, Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans., 2019; Human genomics. 13(1) 21. PMID: 31092297 | PMCID: PMC6521376
Salem RM, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Di Liao C, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan SJ, Haukka JK, Harjutsalo V, Brennan EP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maestroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty AJ, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, RovÄ«te V, PÄ«rÄgs V, Prakapiene E, Radzeviciene L, Verkauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjadj S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun HM, Krolewski A, Paterson AD, Groop PH, Rich SS, Hirschhorn JN, Florez JC, Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen., 2019; Journal of the American Society of Nephrology : JASN. 30(10) 2000-2016. PMID: 31537649 | PMCID: PMC6779358
Onengut-Gumuscu S, Chen WM, Robertson CC, Bonnie JK, Farber E, Zhu Z, Oksenberg JR, Brant SR, Bridges SL, Edberg JC, Kimberly RP, Gregersen PK, Rewers MJ, Steck AK, Black MH, Dabelea D, Pihoker C, Atkinson MA, Wagenknecht LE, Divers J, Bell RA, Erlich HA, Concannon P, Rich SS, Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score., 2019; Diabetes care. 42(3) 406-415. PMID: 30659077 | PMCID: PMC6385701
Hippich M, Beyerlein A, Hagopian WA, Krischer JP, Vehik K, Knoop J, Winker C, Toppari J, Lernmark Ã, Rewers MJ, Steck AK, She JX, Akolkar B, Robertson CC, Onengut-Gumuscu S, Rich SS, Bonifacio E, Ziegler AG, Genetic Contribution to the Divergence in Type 1 Diabetes Risk Between Children From the General Population and Children From Affected Families., 2019; Diabetes. 68(4) 847-857. PMID: 30655385 | PMCID: PMC6425872
Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA, Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis., 2019; Diabetes care. 42(2) 200-207. PMID: 30655379 | PMCID: PMC6341291
Márquez A, Kerick M, Zhernakova A, Gutierrez-Achury J, Chen WM, Onengut-Gumuscu S, González-Ãlvaro I, Rodriguez-Rodriguez L, Rios-Fernández R, González-Gay MA, Mayes MD, Raychaudhuri S, Rich SS, Wijmenga C, MartÃn J, Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations., 2018; Genome medicine. 10(1) 97. PMID: 30572963 | PMCID: PMC6302306
Beyerlein A, Bonifacio E, Vehik K, Hippich M, Winkler C, Frohnert BI, Steck AK, Hagopian WA, Krischer JP, Lernmark Ã, Rewers MJ, She JX, Toppari J, Akolkar B, Rich SS, Ziegler AG, Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study., 2018; Journal of medical genetics. 56(9) 602-605. PMID: 30287597 | PMCID: PMC6690814
Westra HJ, MartÃnez-Bonet M, Onengut-Gumuscu S, Lee A, Luo Y, Teslovich N, Worthington J, Martin J, Huizinga T, Klareskog L, Rantapaa-Dahlqvist S, Chen WM, Quinlan A, Todd JA, Eyre S, Nigrovic PA, Gregersen PK, Rich SS, Raychaudhuri S, Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes., 2018; Nature genetics. 50(10) 1366-1374. PMID: 30224649 | PMCID: PMC6364548
Macri V, Brody JA, Arking DE, Hucker WJ, Yin X, Lin H, Mills RW, Sinner MF, Lubitz SA, Liu CT, Morrison AC, Alonso A, Li N, Fedorov VV, Janssen PM, Bis JC, Heckbert SR, Dolmatova EV, Lumley T, Sitlani CM, Cupples LA, Pulit SL, Newton-Cheh C, Barnard J, Smith JD, Van Wagoner DR, Chung MK, Vlahakes GJ, O'Donnell CJ, Rotter JI, Margulies KB, Morley MP, Cappola TP, Benjamin EJ, Muzny D, Gibbs RA, Jackson RD, Magnani JW, Herndon CN, Rich SS, Psaty BM, Milan DJ, Boerwinkle E, Mohler PJ, Sotoodehnia N, Ellinor PT, Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction., 2018; Circulation. Genomic and precision medicine. 11(5) e001663. PMID: 29752399 | PMCID: PMC6377236
Keaton JM, Gao C, Guan M, Hellwege JN, Palmer ND, Pankow JS, Fornage M, Wilson JG, Correa A, Rasmussen-Torvik LJ, Rotter JI, Chen YI, Taylor KD, Rich SS, Wagenknecht LE, Freedman BI, Ng MCY, Bowden DW, Genome-wide interaction with the insulin secretion locus MTNR1B reveals CMIP as a novel type 2 diabetes susceptibility gene in African Americans., 2018; Genetic epidemiology. 42(6) 559-570. PMID: 29691896 | PMCID: PMC6160319
Bonifacio E, Beyerlein A, Hippich M, Winkler C, Vehik K, Weedon MN, Laimighofer M, Hattersley AT, Krumsiek J, Frohnert BI, Steck AK, Hagopian WA, Krischer JP, Lernmark Ã, Rewers MJ, She JX, Toppari J, Akolkar B, Oram RA, Rich SS, Ziegler AG, Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: A prospective study in children., 2018; PLoS medicine. 15(4) e1002548. PMID: 29614081 | PMCID: PMC5882115
Newman JRB, Conesa A, Mika M, New FN, Onengut-Gumuscu S, Atkinson MA, Rich SS, McIntyre LM, Concannon P, Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes., 2017; Genome research. 27(11) 1807-1815. PMID: 29025893 | PMCID: PMC5668939
Hu X, Deutsch AJ, Lenz TL, Onengut-Gumuscu S, Han B, Chen WM, Howson JM, Todd JA, de Bakker PI, Rich SS, Raychaudhuri S, Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk., 2015; Nature genetics. 47(8) 898-905. PMID: 26168013 | PMCID: PMC4930791
Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P, Todd JA, Wallace C, Concannon P, Rich SS, Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers., 2015; Nature genetics. 47(4) 381-6. PMID: 25751624 | PMCID: PMC4380767