I have been conducting human genetics research for over 10 years. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, and the identification of variation in the TCF7L2 gene playing a role in more than 20 percent of type 2 diabetes cases. I have achieved these findings by working with key populations around the world that provide a unique insight into how to isolate human disease genes.
My current work continues to primarily focus on metabolic disease, with a specific focus on pediatrics. Utilizing high-throughput genotyping technology, my goals include isolating genes involved in childhood obesity and pediatric bone strength determination. Both of these phenotypes are known to be strongly determined by genetic factors; however, the isolation of genes in these complex phenotypes in adults has been impeded by interaction with strong environmental factors. Distillation of the genetic component in these complex traits should be easier to determine in children, where the relatively short period of their lifetime limits the impact of environmental exposure. Given the global prevalence of obesity and osteoporosis, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society.
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Selected Publications
J. Zhao, M. Li, J.P. Bradfield, K. Wang, H. Zhang, P. Sleiman, C.E. Kim, K. Annaiah, W. Glaberson, J.T. Glessner, F.G. Otieno, K.A. Thomas, M. Garris, C. Hou, E.C. Frackelton, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant: Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 58: 2414-2418, 2009.
H. Hakonarson and S.F.A. Grant: Genome-Wide Association Studies in Type 1 Diabetes, Inflammatory Bowel Disease and Other Immune Mediated Disorders. Seminars in Immunology Epub, June 2009.
J. Zhao*, J.P. Bradfield*, M. Li, K. Wang, H. Zhang, C.E. Kim, K. Annaiah, J.T. Glessner, K.A. Thomas, M. Garris, E.C. Frackelton, F.G. Otieno, J.L. Shaner, R.M. Smith, R.M. Chiavacci, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant: The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI. Obesity 17: 2254-2257, 2009 Notes: *equal contribution.
S.J. Diskin, C. Hou, J.T. Glessner, E.F. Attiyeh, M. Laudenslager, K. Bosse, K. Cole, Y.P. Mosse, A. Wood, J.E. Lynch, K. Pecor, M. Diamond, C. Winter, K. Wang, C. Kim, E.A. Geiger, P.W. McGrady, A.I.F. Blakemore, W.B. London, T.H. Shaikh, J. Bradfield, S.F.A. Grant, H. Li, M. Devoto, E.R. Rappaport, H. Hakonarson and J.M. Maris: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459: 987-991, 2009.
K. Wang*, H. Zhang*, D. Ma*, M. Bucan, J.T. Glessner, B.S. Abrahams, D. Salyakina, M. Imielinski, J.P. Bradfield, P.M.A. Sleiman, C.E. Kim, R. Chiavacci, N. Takahashi, T. Sakurai, E. Rappaport, C.M. Lajonchere, J. Munson, A. Estes, O. Korvatska, J. Piven, L.I. Sonnenblick, A.I. Alvarez Retuerto, E.I. Herman, H. Dong, T. Hutman, M. Sigman, S. Ozonoff, A. Klin, T. Owley, J.A. Sweeney, C.W. Brune, R. Cantor, R. Bernier, J.R. Gilbert, M.L. Cuccaro, T.H. Wassink, W.M. McMahon, H. Coon, J. Miller, J.I. Nurnberger Jr., M.W. State, J.L. Haines, J.S. Sutcliffe, E.H. Cook, N.J. Minshew, J.D. Buxbaum, G. Dawson, S.F.A. Grant, D.H. Geschwind, M.A. Pericak-Vance, G.D. Schellenberg and H. Hakonarson: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533, 2009 Notes: *equal contribution.
J.T. Glessner, K. Wang, G. Cai, O. Korvatska, C.E. Kim, S. Wood, H. Zhang, A. Estes, C. Brune, J.P. Bradfield, M. Imielinski, E.C. Frackelton, J. Reichert, E.L. Crawford, J. Munson, P. Sleiman, R. Chiavacci, K. Annaiah, K. Thomas, C. Hou, W. Glaberson, J. Flory, F. Otieno, M. Garris, L. Soorya, L. Klei, J. Piven, K.J. Meyer, E. Anagnostou, T. Sakurai, R.M. Game, D.S. Rudd, D. Zurawiecki, C. McDougle, L.K. Davis, J. Miller, D. Posey, S. Michaels, A. Kolevzon, J.M. Silverman, R. Bernier, S.E. Levy, G. Dawson, T. Owley, W.M. McMahon, T.H. Wassink, J.A. Sweeney, J.I. Nurnberger Jr., H. Coon, J.S. Sutcliffe, N.J. Minshew, S.F.A. Grant, M. Bucan, E.H. Cook Jr., J.D. Buxbaum, B. Devlin, G.D. Schellenberg and H. Hakonarson: Autism genome wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573, 2009.
S. Kugathasan, R.N. Baldassano, J.P. Bradfield, P.M.A. Sleiman, M. Imielinski, S.L. Guthery, S. Cucchiara, C.E. Kim, E.C. Frackelton, K. Annaiah, J.T. Glessner, E. Santa, T. Willson, A.W. Eckert, E. Bonkowski , J.L. Shaner, R.M. Smith, F.G. Otieno, N. Peterson, D.J. Abrams, R.M. Chiavacci, R. Grundmeier, P. Mamula, G. Tomer, D.A. Piccoli, D.S. Monos, V. Annese, L.A. Denson, S.F.A. Grant and H. Hakonarson: Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nature Genetics 40: 1211-1215, 2008.
H. Hakonarson*, S.F.A. Grant*, J.P. Bradfield*, L. Marchand, C.E. Kim, J.T. Glessner, R. Grabs, T. Casalunovo, S.P. Taback, E.C. Frackelton, M.L. Lawson, L.J. Robinson, R. Skraban, Y. Lu, R.M. Chiavacci, C.A. Stanley, S.E. Kirsch, E.F. Rappaport, J.S. Orange, D.S. Monos, M. Devoto, H. Qu and C. Polychronakos: A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 448(7153): 591-4, 2007 Notes: *equal contribution.
S.F.A. Grant, G. Thorleifsson, I. Reynisdottir, R. Benediktsson, A. Manolescu, J. Sainz, A. Helgason, H. Stefansson, V. Emilsson, A. Helgadottir, U. Styrkarsdottir, K.P. Magnusson, G. B. Walters, E. Palsdottir, T. Jonsdottir, T. Gudmundsdottir, A. Gylfason, J. Saemundsdottir, R.L. Wilensky, M.P. Reilly, D.J. Rader, Y. Bagger, C. Christiansen, V.Gudnason, G. Sigurdsson, U. Thorsteinsdottir, J.R. Gulcher, A. Kong and K. Stefansson : Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics 38(3): 320-3, 2006.
S.F.A. Grant, D.M. Reid, G. Blake, R. Herd, I. Fogelman and S.H. Ralston: Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nature Genetics 14(2): 203-5, 1996.
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