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Struan Grant, PhD

Expertise

CLINICAL:

N/A

RESEARCH:

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.

Appointments

Assistant Professor of Pediatrics in Genetics, University of Pennsylvania School of Medicine (2008 – present)

Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine (2007 – present)

Education

PhD, Genetics, University of Aberdeen, UK (1995)

BSc, Genetics, University of Aberdeen, UK (1991)

Selected Publications

A.K. Mondal*, S.K. Das*, G. Baldini, W.S. Chu, N.K. Sharma, O.G. Hackney, J. Zhao, S.F.A. Grant and S.C. Elbein. Genotype and Tissue Specific Effects on Alternative Splicing of the Transcription Factor 7-like 2 Gene in Humans. Journal of Clinical Endocrinology & Metabolism. Vol Epub. 2010 January.

P.M.A. Sleiman, J. Flory, M. Imielinski, J.P. Bradfield, K. Annaiah, S.A.G. Willis-Owen, K. Wang, N.M. Rafaels, S. Michel, K. Bonnelykke, H. Zhang, C.E. Kim, E.C. Frackelton, J.T. Glessner, C. Hou, F.G. Otieno, E. Santa, K. Thomas, R.M. Smith, W.R. Glaberson, M. Garris, R.M. Chiavacci, T.H. Beaty, I. Ruczinski, J. Orange, J. Allen, J.M. Spergel, R. Grundmeier, R.A. Mathias, J.D. Christie, E. von Mutius, W.O.C. Cookson, M. Kabesch, M.F. Moffatt, M.M. Grunstein, K.C. Barnes, M. Devoto, M. Magnusson, H. Li, S.F.A. Grant, H. Bisgaard and H. Hakonarson. A locus on 1q31 harboring DENND1B is associated with asthma susceptibility in both Caucasian and African American children. New England Journal of Medicine. Vol 362. 2010:36-44.

J. Zhao, J.P. Bradfield, H. Zhang, K. Annaiah, K. Wang, C.E. Kim, J.T. Glessner, E.C. Frackelton, F.G. Otieno, J. Doran, K.A. Thomas, M. Garris, C. Hou, R.M. Chiavacci, M. Li, R.I. Berkowitz, H. Hakonarson and S.F.A. Grant. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes. Vol Epub. 2009 Nov.

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. Vol 58. 2009:2414-2418.

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. Vol 17. 2009:2254-2257.

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. Vol 459. 2009:528-533.

S.F.A. Grant*, H. Qu*, J.P. Bradfield, L. Marchand, C.E. Kim, J.T. Glessner, R. Grabs, S.P. Taback, E.C. Frackelton, A.W. Eckert, K. Annaiah, M.L. Lawson, F.G. Otieno, E. Santa, J.L. Shaner, R.M. Smith, R. Skraban, M. Imielinski, R.M. Chiavacci, R.W. Grundmeier, C.A. Stanley, S.E. Kirsch, D. Waggott, A.D. Paterson, The DCCT/EDIC Research Group, D.S. Monos, C. Polychronakos and H. Hakonarson. Follow up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. Vol 58. 2009:290-5.

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. Vol 448(7153) . 2007:591-4.

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. Vol 38(3) . 2006:320-3.

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. Vol 14(2) . 1996:203-5.