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Personal History
Alan R. Shuldiner received his BA degree (Chemistry) from Lafayette College (’79) and his MD degree from Harvard Medical School (’84). He was a resident in internal medicine at Columbia-Presbyterian Hospital in New York City and a Medical and Senior Staff Fellow in Endocrinology and Metabolism in the Diabetes Branch at the National Institutes of Health. Dr. Shuldiner is board certified in both Internal Medicine and Endocrinology and Metabolism. In 1991, he joined the faculty at Johns Hopkins University, Division of Geriatric Medicine and Gerontology as an Assistant Professor, and in 1993 he was promoted to Associate Professor. In 1997 he was recruited to the University of Maryland as Professor and Head of the Division of Diabetes, Obesity and Nutrition in the Department of Medicine. In 1999, the Division of Diabetes, Obesity and Nutrition and the Division of Endocrinology were combined, and Dr. Shuldiner assumed the leadership of the newly named Division of Endocrinology, Diabetes and Nutrition. In 2005, Dr. Shuldiner was named the John Whitehurst Professor of Medicine and was appointed the Director of the University of Maryland School of Medicine Interdepartmental Program in Genetics and Genomic Medicine. Dr. Shuldiner is also a Core Investigator at the Geriatric Research and Education Clinical Center (GRECC) at the Baltimore Veterans Administration Medical Center and Network Director of the Joslin Diabetes Center at the University of Maryland.Research Interests
Dr. Shuldiner’s major research interests are in the molecular basis and genetics of type-2 diabetes, obesity and insulin resistance. He has published over 130 original articles and 50 review articles. His studies of type-2 diabetes candidate genes include studies in African Americans, Pima Indians, Mexican Americans and Caucasians. His group was the first to discover a common mutation in the beta-3-adrenergic receptor (Trp64Arg) that influences several features of the insulin resistance syndrome, including insulin resistance, obesity and visceral fat accumulation. His group was also the first to describe a common variant in the peroxisome proliferator activated receptor gamma-2 gene (Pro12Ala PPAR¿2), which associates with obesity, increased insulin sensitivity and protection from type 2 diabetes. Most recently, his group has utilized genome scan/positional cloning approaches to identify several chromosomal regions that are likely to harbor susceptibility genes for type 2 diabetes, hypertension, obesity and hyperlipidemia in the Old Order Amish. These studies in the Amish have recently been expanded to include genetic studies of cardiovascular disease, osteoporosis, osteogenesis imperfecta, autoimmune thyroid disease, longevity and pharmacogenomics. Dr. Shuldiner has broad-based financial support for his research including NIH, American Diabetes Association, Juvenile Diabetes Foundation, Ellison Foundation and biotech/pharmaceuticals.Publications
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HIGHLIGHTED PUBLICATIONS
Amish Family Diabetes Study
Hsueh W-C, Mitchell BD, Aburomia R, Sakul H, Ehm MG, Michelsen B, Wagner MJ, St. Jean PL, Knowler WC, Burns DK, Bell CJ, Shuldiner AR. Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study. Diab Care 23:595-601, 2000.
Hsueh W-C, Mitchell BD, Schneider JL, Wagner M, Bell CJ, Nanthakamur E, Shuldiner AR. A QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31-34 in the Old Order Amish. Circulation 101:2810-2816, 2000.
Hsueh W-C, Mitchell BD, Schneider JL, St. Jean PL, Pollin TI, Ehm MG, Wagner MJ, Burns DK, Bell CJ, Shuldiner AR. Genome-wide scan of obesity and leptin levels in the Old Order Amish. J Clin Endocrinol Metab 86:1199-1205, 2001.
Steinle N, Hsueh W-C, Snitker S, St. Jean PL, Sakul H, Ehm MG, Burns DK, Bell CJ, Mitchell BD, Shuldiner AR. Eating behavior in the Old Order Amish: heritability analysis and a genome wide scan. Am J Clin Nutr 75:1098-106, 2002.
Allen EM, Hsueh W-C, Sabra MM, Pollin TI, Ladenson PW, Silver KD, Mitchell BD, Shuldiner AR. A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: Replication of genetic linkage on chromosome 5q11.2-q14.3. J Clin Endocrinol Metab 88:1292-1296, 2003.
Hsueh W-C, St. Jean PL, Mitchell BD, Pollin TI, Knowler WC, Ehm MG, Bell CJ, Sakul H, Wagner MJ, Burns DK, Shuldiner AR. Genome-wide and fine-mapping linkage studies of type-2 diabetes and glucose traits in the Old Order Amish: Evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24. Diabetes 52:550-557, 2003.
Snitker S, Mitchell BD, Shuldiner AR. Physical activity and prevention of type-2 diabetes (letter). Lancet 361:87-88, 2003.
Miura J, Pollin T, Hu Y, Notkins AL, Shuldiner AR. Autoantibodies in type-1 and type-2 diabetes in the Old Order Amish of Pennsylvania (2003) Diabetologia 46: 1024-1025, 2003.
Pollin TI, Hsueh W-C, Steinle NI, Snitker S, Shuldiner AR, Mitchell BD. A genome-wide scan of lipid levels in the Old Order Amish. Atherosclerosis 173:89-96, 2004.
Rutherford S, Shuldiner AR, Mitchell BD. Genome scans of type-2 diabetes mellitus. Chapter 23 in: The International Textbook of Diabetes Mellitus (3rd ed.) E. Ferrannini, P. Zimmet, R. DeFronzo, H. Keen, Eds. J Wiley & Sons, W Sussex, UK, 2004. pp. 439-450.
Damcott CM, Sack P, Shuldiner AR. The genetics of obesity. Endocrinol Metab Clin North Am 32:761-786, 2003.
Horenstein RB, Shuldiner AR. Genetics of Diabetes (2004) In: Genetics of Endocrine and Metabolic Disorders, LeRoith D, Levine M, Eds. Kluwer Academic Publishers, 2004, pp. 25-36.
Steinle NI, Kazlauskaite R, Imumorin IG, Hsueh W-C, Pollin TI, Mitchell BD, Shuldiner AR. Variation in the Lamin A/C (LMNA) Gene: Associations with metabolic syndrome. Arterio Thromb Vasc Biol 24:1708-13, 2004.
Snitker S, Shuldiner AR. BMI in the Old Order Amish. Med Sci Sports Exerc 36:1447, 2004.
Fu M, Damcott C, Sabra M, Pollin TI, Ott S, Wang J, Garant M, O’Connell J, Mitchell BD, Shuldiner AR. Polymorphism in the Calsequestrin 1 gene on chromosome 1q21 is associated with type 2 diabetes in the Old Order Amish. Diabetes (in press)
Damcott C, Hoppman N, Reinhart LJ, Wang J, O’Connell JR, Mitchell BD, Shuldiner AR. Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type-2 diabetes in the Amish. Diabetes (in press)
Pollin TI, Tanner K, O’Connell JR, Ott SH, Damcott CM, Shuldiner AR, McLenithan JC, Mitchell BD. Linkage of plasma adiponectin levels to 3q27 explained by association with variation in the APM1 gene. Diabetes (in press)
Sabra M, Damcott C, Fu M, Ott S, O’Connell J, Mitchell BD, Shuldiner AR. 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. Molec Genetics Metab (in press)
Damcott CM, Ott SH, Pollin TI, Reinhart LJ, Wang J, O’Connell JR, Mitchell BD, Shuldiner AR. Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type-2 diabetes in the Old Order Amish. (submitted)
Steinle NI, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR. Variants in the ghrelin gene are associated with metabolic syndrome and related traits in the Old Order Amish (submitted).
Rutherford S, Imumorin IG, O’Connell JR, Reinhart LJ, Pollin TI, Jian Wang J, Ott SH, Steine NI, Mitchell BD, Shuldiner AR. Progress toward positional cloning of a gene influencing blood pressure on chromosome 2q31-q34 in the Amish. (submitted, Hypertension)
Amish Family Osteoporosis Study
Streeten EA, McBride DJ, Lodge A, Pollin T, Stinchcomb DG, Agarwala R, Schäffer AA, Shapiro JR, Shuldiner AR, Mitchell BD. Osteoporosis in the Old Order Amish: A population at decreased risk for fracture. J Bone Miner Res 19:308-313, 2004.
Brown LB, Streeten EA, Shuldiner AR, Almasy LA, Peyser PA, Mitchell BD. Assessment of sex-specific genetic and environmental effects on bone mineral density. Genetic Epid 27:153-161, 2004
Streeten EA, Ryan KA, McBride D, Pollin TI, Shuldiner AR, Mitchell BD. The relation between parity and bone mineral density in women characterized by a homogeneous lifestyle and high parity. (submitted)
Genetics of Longevity in the Amish
Steinle N, Shuldiner AR. The Old Order Amish: A unique model to study ageing. J Brit Menop Soc 6:127-128, 2000.
Mitchell BD, Hsueh W-C, King TM, Pollin TI, Sorkin J, Agarwala R, Schaffer AA, Shuldiner AR. Heritability of life span in the Old Order Amish. Am J Med Genet 102:346-352, 2001.
Sorkin J, Post W, Pollin TI, O’Connell JR, Mitchell BD, Shuldiner AR. Exploring the genetics of longevity in the Old Order Amish. Mechanisms of Ageing and Development. The voyage to old age: searching for human longevity genes (in press)