Howard Hall Room 592
Education and Training
1995 A.A.S. Cellular Biotechnology, State University of New York College of Technology at Alfred, Alfred, New York
1997 B.S. Biology with a Concentration in Genetics and Development, Cornell University, College of Agriculture and Life Sciences, Ithaca, New York
2002 Ph.D. Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, Pennsylvania
Post Graduate Education and Training
2002-2005 Postdoctoral Fellow, T32 Training Grant in Biology of Exercise, Metabolism and Aging, Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine
My laboratory studies the genetics and molecular basis of complex diseases including obesity, type 2 diabetes and cardiovascular disease. I use a variety of approaches including candidate gene, linkage disequilibrium mapping, genome wide association studies and more recently exome and whole genome sequencing to identify genes and/or variants involved in disease susceptibility. These variants provide the basis for designing and executing follow up studies to investigate the physiological consequences of the genetic variation to gain a greater understanding of both normal and pathophysiology with the goal of translating our finding to personalized disease prevention and treatment. In particular, I have played key roles as both a lead and co-investigator using these techniques in studies involving the Lancaster Old Order Amish since 2002.
In January of 2014 I was appointed as the director of the University of Maryland Medicine (UMM) Biorepository an initiative established by the Program for Personalized and Genomic Medicine (PPGM) to empower basic and clinical researchers to make discoveries in genomics and ‘omics’ science and to translate these discoveries to more effective diagnostics and therapeutics. It is a resource building effort that includes banking of blood samples from UMMS patients as well as collections of various biospecimens from collaborating UM researchers. State-of-the-art robotic freezer and liquid-handling equipment offers a secure and managed environment for biospecimen processing, storage and distribution. Data connected to the samples is obtained through the electronic health record and/or study-specific data collection, allowing for multi-disciplinary research that can impact a range of health issues.
diabetes, cardiovascular disease, genetics, genomics, biobanking, personalized medicine, precision medicine
- Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science, 322(5908):1702-5. PMCID: PMC2673993.
- Shen H, Damcott CM, Rampersaud E, Pollin TI, Horenstein RB, McArdle PF, Peyser PA, Bielak LF, Post WS, Chang YP, Ryan KA, Miller M, Rumberger JA, Sheedy PF 2nd, Shelton J, O'Connell JR, Shuldiner AR, Mitchell BD (2010) Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. Arch Intern Med, 170(20):1850-5. PMCID: PMC3587042.
- Albert JS, Yerges-Armstrong LM, Horenstein RB, Pollin TI, Sreenivasan UT, Chai S, Blaner WS, Snitker S, O'Connell JR, Gong DW, Breyer RJ 3rd, Ryan AS, McLenithan JC, Shuldiner AR, Sztalryd C, Damcott CM (2014) Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. N Engl J Med, 370(24):2307-15. PMCID: PMC4096982.
- Kimm SYS, Glynn NW, Aston CE, Damcott CM, Poehlman ET, Daniels SR, Ferrell RE (2002) Racial differences in the relation between uncoupling protein genes and resting energy expenditure. Am J Clin Nutr 75:714-9; PMID: 11916758
- Damcott CM, Feingold E, Moffett SP, Barmada M, Marshall JA, Hamman RF, Ferrell RE (2003) Variation in the FABP2 promoter alters transcriptional activity and is associated with body composition and plasma lipid levels. Hum Genet 112:610-616; PMID: 12634920
- Damcott CM, Moffett SP, Feingold E, Barmada M, Marshall JA, Hamman RF, Ferrell RE (2003) Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males. Metabolism 53:303-309; PMID: 15015141
- Damcott CM, Feingold E, Moffett SP, Barmada M, Marshall JA, Hamman RF, Ferrell RE (2003) Genetic variation in uncoupling protein 3 is associated with dietary intake and body composition in females. Metabolism 53:458-464; PMID: 15045692
- Fu M, Damcott C, Sabra M, Pollin TI, Ott S, Wang J, Garant M, O’Connell J, Mitchell BD, Shuldiner AR (2004) Polymorphism in the calsequestrin 1 gene on chromosome 1q21 is associated with type 2 diabetes in the Old Order Amish. Diabetes 53:3292-3299; PMID: 15561962
- Damcott CM, Hoppman NL, Ott SH, Reinhart LJ, Wang J, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR (2004) Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish. Diabetes 53:3337-3341; PMID: 15561969
- Pollin TI, Tanner K, O’Connell JR, Ott SH, Damcott CM, Shuldiner AR, McLenithan JC, Mitchell BD (2005) Linkage of plasma adiponectin levels to 3q27 explained by association with variation in the APM1 gene. Diabetes 54:268-274; PMID: 15616038
- Sabra MM, Fu M, Damcott C, Ott S, O'Connell J, Mitchell B, Shuldiner A (2005) Vesicle-associated membrane protein 4 (VAMP4), a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish. Mol Genet Metab 85:133-139; PMID: 15896658
- Damcott CM, Ott SH, Reinhart LJ, Wang J, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR (2005) Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish. Diabetes 54:2245-50; PMID: 15983228
- Moffett SP, Feingold E, Barmada MM, Damcott CM, Marshall J, Hamman R, Ferrell RE (2005) The C161T polymorphism in PPARγ, but not P12A, is associated with insulin resistance in Hispanic and non-Hispanic white females: Evidence for another functional variant in PPARγ. Metabolism 54:1552-1556; PMID: 16253648
- Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MCY, O’Connell JR, Pollin TI, Vaxillaire M, Walker M, Wang X, Whittaker P, Xiang K, Jia W, Chan JCN, Froguel P, Deloukas P, Shuldiner AR, Elbein SC, McCarthy MI for the International 1q Type 2 Diabetes Consortium (2006) Variation within the gene encoding the Upstream Stimulatory Factor 1 (USF1) does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes 55:2541-2548; PMID: 16936202
- Damcott CM, Pollin TI, Reinhart LJ, Ott SH, Shen H, Silver KD, Mitchell BD, Shuldiner AR (2006) Polymorphisms in the Transcription Factor 7-like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in the Amish: Replication and evidence for a role in both insulin secretion and insulin resistance. Diabetes 55:2654-2659; PMID: 16936218
- Chu WS, Das SK, Wang H, Chan JC, Deloukas P, Froguel P, Baier LJ, Jia W, McCarthy MI, Ng MC, Damcott C, Shuldiner AR, Zeggini E, Elbein SC (2007) Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits. Diabetes 56:856-62; PMID: 17327457
- Fu M, Sabra MM, Damcott C, Pollin TI, Ma L, Ott S, Shelton JC, Shi X, Reinhart L, O'Connell J, Mitchell BD, Baier LJ, Shuldiner AR (2007) Evidence that Rho Guanine Nucleotide Exchange Factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order Amish. Diabetes 56(5):1363-1368; PMID: 17369523
- Roberts CGP, Shen H, Mitchell BD, Damcott CM, Shuldiner AR, Rodriguez A (2007) Variants in Scavenger Receptor Class B Type I gene are associated with HDL cholesterol levels in younger women. Hum Hered 64:107-113; PMID: 17476110
- Post W, Shen H, Damcott C, Arking DE, Kao WHL, Sack PA, Ryan KA, Chakravarti A, Mitchell BD, Shuldiner AR (2007) Associations between Genetic Variants in the NOS1AP (CAPON) Gene and Cardiac Repolarization in the Old Order Amish. Hum Hered 64:214-219; PMID: 17565224
- Njajou OT, Cawthon RM, Damcott CM, Wu SH, Ott S, Garant MJ, Blackburn EH, Mitchell BD, Shuldiner AR, Hsueh WC (2007) Telomere length is paternally inherited and is associated with parental lifespan. PNAS 104:12135-12139; PMID: 17623782
- Rampersaud E, Damcott CM, Fu M, Shen H, McArdle P, Shi X, Shelton J, Yin J, Ott SH, Zhang L, Zhao Y, Mitchell BD, O’Connell J, Shuldiner AR (2007) Identification of novel candidate genes for type 2 diabetes from a 100K genome-wide association scan in the Old Order Amish: Evidence for replication from diabetes-related quantitative traits and from independent populations. Diabetes 56:3053-62; PMID: 17846126
- Mitchell BD, McArdle PF, Shen H, Rampersaud E, Pollin TI, Bielak LF, Jaquish C, Douglas JA, Roy-Gagnon MH, Sack P, Naglieri R, Hines S, Horenstein RB, Chang YP, Post W, Ryan KA, Brereton NH, Pakyz RE, Sorkin J, Damcott CM, O'Connell JR, Mangano C, Corretti M, Vogel R, Herzog W, Weir MR, Peyser PA, Shuldiner AR (2008) The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study. Am Heart J 155:823-8; PMID: 18440328
- McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N (2008) Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study. BMC Med Genet 9:67; PMID: 18625075
- Shen H, Pollin TI, Damcott CM, McLenithan JC, Mitchell BD, Shuldiner AR (2009) Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study. Hum Genet 126(4):567-74; PMID: 19526250
- Shuldiner AR, O'Connell JR, Bliden KP, Gandhi A, Ryan K, Horenstein RB, Damcott CM, Pakyz R, Tantry US, Gibson Q, Pollin TI, Post W, Parsa A, Mitchell BD, Faraday N, Herzog W, Gurbel PA (2009) Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA 302(8):849-57; PMID: 19706858
- Jenkins NT, McKenzie JA, Damcott CM, Witkowski S, Hagberg JM (2010) Endurance exercise training effects on body fatness, VO2max, HDL-C subfractions, and glucose tolerance are influenced by a PLIN haplotype in older Caucasians. J Appl Physiol 108(3):498-506; PMID: 19850727
- Njajou O, Blackburn E, Pawlikowska L, Mangino M, Damcott C, Kwok PY, Spector T, Newman A, Harris T, Cummings S, Cawthon R, Shuldiner A, Valdes A, Hsueh WC (2010) A common variant in the telomerase RNA component is associated with short telomere length. PLoS One 5(9):e13048; PMID: 20885959
- Shen H, Damcott C, Shuldiner SR, Chai S, Yang R, Hu H, Gibson Q, Ryan KA, Mitchell BD, Gong DW (2011) Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels. J Hum Genet 56(11):801-5; PMID: 21900944
- Streeten EA, Zarbalian K, Damcott CM (2011) CYP24A1 mutations in idiopathic infantile hypercalcemia. N Engl J Med 365(18):1741-2; PMID: 22047572
- Lewis JP, Ryan K, O'Connell JR, Horenstein RB, Damcott CM, Gibson Q, Pollin TI, Mitchell BD, Beitelshees AL, Pakzy R, Tanner K, Parsa A, Tantry US, Bliden KP, Post WS, Faraday N, Herzog W, Gong Y, Pepine CJ, Johnson JA, Gurbel PA, Shuldiner AR (2013) Genetic Variation in PEAR1 Is Associated With Platelet Aggregation and Cardiovascular Outcomes. Circ Cardiovasc Genet 6(2):184-92; PMID: 23392654
- Yerges-Armstrong LM, Chai S, O'Connell JR, Curran JE, Blangero J, Mitchell BD, Shuldiner AR, Damcott CM (2016) Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene. J Gerontol A Biol Sci Med Sci. 2016 Feb 19. pii: glv212. [Epub ahead of print]; PMID:26896383