I have been conducting human genomics research for over 20 years. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, the identification of variation in the TCF7L2 gene playing a key role in conferring type 2 diabetes risk and providing leadership in an international genetics effort to characterize genes influencing birth weight and common childhood obesity risk. I have also previously played a role in uncovering genes involved in other traits, including cleft lip with or without palate, scoliosis, inflammatory bowel disease, autism, ADHD, head circumference, intracranial volume, myocardial infarction, pediatric eosinophilic esophagitis, type 1 diabetes, asthma, multiple sclerosis and neuroblastoma.
My current work continues to primarily investigate disease genomics, with a specific focus on pediatrics. Utilizing high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, my goals include unraveling genomic puzzles related to childhood obesity, pediatric bone strength determination, early onset diabetes and cancer. These phenotypes are known to be strongly determined by genetic factors; however, resolving genomic contributors to such complex phenotypes in adults has been impeded by interaction with strong environmental factors. Distillation of the genomic architecture 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 such diseases, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society.
Funding as PI:
R01 HD056465, R01 HD058886, R01 DK085212, Pennsylvania Department of Health CURE award, Daniel B. Burke Endowed Chair for Diabetes Research
Michele Bergman, Alessandra Chesi, Kenyaita Hodge, Matthew E. Johnson, Brian T. Johnston, Lakeetra Josey, Michelle E. Leonard, Sumei Lu, Rajashree Mishra, Jonathan A. Mitchell, Jesus Sainz, Qianghua Xia
Former members: Kevin J. Basile, Sandra Deliard, Vanessa C. Guy, Jianhua Zhao
- Assistant Professor of Pediatrics in Genetics at University of Pennsylvania School of Medicine (2008 – 2013)
- Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (2007 – 2013)
- Associate Professor of Pediatrics in Genetics at University of Pennsylvania School of Medicine (2013– present)
- Associate Professor of Pediatrics at University of Pennsylvania School of Medicine (2013– present)
- PhD, Genetics, University of Aberdeen, UK (1995)
- BSc, Genetics, University of Aberdeen, UK (1991)
- M. Horikoshi*, H. Yaghootkar*, D.O. Mook-Kanamori*, U. Sovio, H.R. Taal, B.J. Hennig, J.P Bradfield, B. St Pourcain, D.M. Evans, P. Charoen, M. Kaakinen, D.L. Cousminer, T. Lehtimäki, E. Kreiner-Møller, N.M. Warrington, M. Bustamante, B. Feenstra, D.J. Berry, E. Thiering, T. Pfab, S.J. Barton, B.M. Shields, M. Kerkhof, E.M. van Leeuwen, A.J. Fulford, Z. Kutalik, J.H. Zhao, M. den Hoed, A. Mahajan, V. Lindi, L.K. Goh, J.J. Hottenga, Y. Wu, O.T. Raitakari, M.N. Harder, A. Meirhaeghe, I. Ntalla, R.M. Salem, K.A. Jameson, K. Zhou, D.M. Monies, V. Lagou, M. Kirin, J. Heikkinen, L.S. Adair, F.S. Alkuraya, A. Al-Odaib, P. Amouyel, E.A. Andersson, A.J. Bennett, A.I.F. Blakemore, J.L. Buxton, J. Dallongeville, S. Das, E.J.C. de Geus, X. Estivill, C. Flexeder, P. Froguel, F. Geller, K.M. Godfrey, F. Gottrand, C.J. Groves, T. Hansen, J.N. Hirschhorn, A. Hofman, M.V. Hollegaard, D.M. Hougaard, E. Hyppönen, H.M. Inskip, A. Isaacs, T. Jørgensen, C. Kanaka-Gantenbein, J.P. Kemp, W. Kiess, T.O. Kilpeläinen, N. Klopp, B.A. Knight, C.W. Kuzawa, G. McMahon, J.P. Newnham, H. Niinikoski, B.A. Oostra, L. Pedersen, D.S. Postma, S.M. Ring, F. Rivadeneira, N.R. Robertson, S. Sebert, O. Simell, T. Slowinski, C.M.T. Tiesler, A. Tönjes, A. Vaag, J.S. Viikari, J.M. Vink, N.H. Vissing, N.J. Wareham, G. Willemsen, D.R. Witte, H. Zhang, J. Zhao, The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), J.F. Wilson, M. Stumvoll, A.M. Prentice, B.F. Meyer, E.R. Pearson, C.A.G. Boreham, C. Cooper, M.W. Gillman, G.V. Dedoussis, L.A. Moreno, O. Pedersen, M. Saarinen, K.L. Mohlke, D.I. Boomsma, S.M. Saw, T.A. Lakka, A. Körner, R.J.F. Loos, K.K. Ong, P. Vollenweider, C.M. van Duijn, G.H. Koppelman, A.T. Hattersley, J.W. Holloway, B. Hocher, J. Heinrich, C. Power, M. Melbye, M. Guxens, C.E. Pennell, K. Bønnelykke, H. Bisgaard, J.G. Eriksson, E. Widén, H. Hakonarson, A.G. Uitterlinden, A. Pouta, D.A. Lawlor, G. Davey Smith, T.M. Frayling, M.I. McCarthy*, S.F.A. Grant*, V.W.V. Jaddoe*, M.R. Jarvelin*, N.J. Timpson*, I. Prokopenko* and R.M. Freathy* for the Early Growth Genetics (EGG) Consortium. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics. Vol 45. 2013:76-82.
- J.P. Bradfield*, H.R. Taal*, N.J Timpson, A. Scherag, C. Lecoeur, N.M. Warrington, E. Hypponen, C. Holst, B. Valcarcel, E. Thiering, R.M. Salem, F.R. Schumacher, D.L. Cousminer, P.M.A. Sleiman, J. Zhao, R.I. Berkowitz, K.S. Vimaleswaran, I. Jarick, C.E. Pennell, D.M. Evans, B. St Pourcain, D.J. Berry, D.O. Mook-Kanamori, A. Hofman, F. Rivadeneira, A.G. Uitterlinden, C.M. van Duijn, R.J.P. van der Valk, J.C. de Jongste, D.S. Postma, D.I. Boomsma, W.J. Gauderman, M.T. Hassanein, C.M. Lindgren, R. Mägi, C.A.G. Boreham, C.E. Neville, L.A. Moreno, P. Elliott, A. Pouta, A.L. Hartikainen, M. Li, O. Raitakari, T. Lehtimäki, J.G Eriksson, A. Palotie, J. Dallongeville, S. Das, P. Deloukas, G. McMahon, S.M. Ring, J.P. Kemp, J.L. Buxton, A.I.F. Blakemore, M. Bustamante, M. Guxens, J.N. Hirschhorn, M.W. Gillman, E. Kreiner-Møller, H. Bisgaard, F.D. Gilliland, J. Heinrich, E. Wheeler, I. Barroso, S. O?Rahilly, A. Meirhaeghe, T.I.A. Sørensen, C. Power, L.J. Palmer, A. Hinney, E. Widen, I.S. Farooqi, M.I. McCarthy, P. Froguel, D. Meyre, J. Hebebrand, M.R. Jarvelin, V.W.V. Jaddoe, G. Davey Smith, H. Hakonarson and S.F.A. Grant for the Early Growth Genetics (EGG) Consortium. A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics. Vol 44. 2012:526?531.
- 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.