Struan F.A. Grant, PhD

faculty photo
Professor of Pediatrics
Department: Pediatrics

Contact information
Divisions of Human Genetics and Endocrinology
Children’s Hospital of Philadelphia Research Institute
Rm 1102D, 3615 Civic Center Boulevard
Philadelphia, PA 19104
Office: 267-426-2795
Fax: 215-590-1258
BSc (Genetics)
University of Aberdeen, UK, 1991.
PhD (Genetics)
University of Aberdeen, UK, 1995.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Research Expertise

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.

As a Director of the Center for Spatial and Functional Genomics at the Children's Hospital of Philadelphia, my current work primarily involves investigating 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 DK122586, R01 HL143790, R01 AG057516, R01 HD056465, R01 DK085212, R21 HD089824 (completed), R01 HD058886 (completed), Pennsylvania Department of Health CURE award (completed), Daniel B. Burke Endowed Chair for Diabetes Research

Funding as Co-investigator:
R01 HG010067, R01 AI146026, R01 AR056837, R01 AR069055, R01 CA196299, R56 DK097830.

Research Team:
Keith Boehm, Jonathan P. Bradfield, Elizabeth Burton, Alessandra Chesi, Diana L. Cousminer, Jacquelyn L. Deverell, Reza K. Hammond, Matthew E. Johnson, Chiara Lasconi, Michelle E. Leonard, Sheridan Littleton, Sumei Lu, Matthew C. Pahl, James A. Pippin, Chun Su

Former members: Sandra Deliard, Vanessa C. Guy, Kenyaita M. Hodge, Brian T. Johnston, Elisabetta Manduchi, Rajashree Mishra, Ursula W. Parlin, Qianghua Xia, Jianhua Zhao

Selected Publications

D.L. Cousminer*, Y. Wagley*, J.A. Pippin*, A. Elhakeem, G.P. Way, S.E. McCormack, A. Chesi, J.A. Mitchell, J.M. Kindler, D. Baird, A. Hartley, L. Howe, H.J. Kalkwarf, J.M. Lappe, S. Lu, M. Leonard, M.E. Johnson, H. Hakonarson, V. Gilsanz, J.A. Shepherd, S.E. Oberfield, C.S. Greene, A. Kelly, D. Lawlor, B.F. Voight, A.D. Wells, B.S. Zemel, K.D. Hankenson* and S.F.A. Grant*: Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping. medRxiv February 2020 Notes: *equal contribution;

R. Mishra*, M. Åkerlund*, D.L. Cousminer*, E. Ahlqvist, J.P. Bradfield, A. Chesi, K.M. Hodge, V.C. Guy, D.J. Brillon, R.E. Pratley, M.R. Rickels, A. Vella, F. Ovalle, R.I. Harris, O. Melander, S. Varvel, H. Hakonarson, P. Froguel, J.T. Lonsdale, D. Mauricio, N.C. Schloot, K. Khunti, C.J. Greenbaum, K.B. Yderstræde, T. Tuomi, B.F. Voight, S. Schwartz, B.O. Boehm, L. Groop, R.D. Leslie and S.F.A. Grant: Genetic discrimination between LADA and childhood-onset type 1 diabetes within the MHC. Diabetes Care 43: 418–425, 2020 Notes: *equal contribution.

C. Su*, M.E. Johnson*, A. Torres*, R.M. Thomas*, E. Manduchi, P. Sharma, C. Le Coz, M.E. Leonard, S. Lu, K.M. Hodge, A. Chesi, J. Pippin, N. Romberg, S.F.A. Grant* and A.D. Wells*: Human follicular helper T cell promoter connectomes reveal novel genes and regulatory elements at SLE GWAS loci. bioRxiv December 2019 Notes: *equal contribution;

A. Chesi*, Y. Wagley*, M.E. Johnson*, E. Manduchi*, C. Su, S. Lu, M.E. Leonard, K.M. Hodge, J.A. Pippin, K.D. Hankenson*, A.D. Wells* and S.F.A. Grant*: Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density Nature Communications 10: 1260, 2019 Notes: *equal contribution.

M. Çalışkan, E. Manduchi, H.S. Rao, J.A. Segert, M. Holsbach Beltrame, M. Trizzino, Y. Park, S.W. Baker, A. Chesi, M.E. Johnson, K.M. Hodge, M.E. Leonard, B. Loza, D. Xin, A.M. Berrido, N.J. Hand, R.C. Bauer, A.D. Wells, K.M. Olthoff, A. Shaked, D.J. Rader, S.F.A. Grant and C.D. Brown: Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver. American Journal of Human Genetics 105: 89-107, 2019 Notes: ASHG C.W. Cotterman award.

D.L. Cousminer and S.F.A. Grant: Public resources aid diabetes gene discovery. Nature Genetics 50: 1499-1500, 2018.

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 45: 76-82, 2013 Notes: *equal contribution.

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 44: 526–531, 2012 Notes: *equal contribution.

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: 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: 320-3, 2006 Notes: TOP COVER STORY.

back to top
Last updated: 05/29/2020
The Trustees of the University of Pennsylvania