Struan F.A. Grant, PhD

faculty photo
Professor of Pediatrics (Human Genetics)
Department: Pediatrics

Contact information
Department of Genetics
Perelman School of Medicine, University of Pennsylvania
415 Curie Boulevard

Department of Pediatrics
Divisions of Human Genetics and Endocrinology
Children’s Hospital of Philadelphia Research Institute
1102D ARC, 3615 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-200-0196
BSc (Genetics)
University of Aberdeen, UK, 1991.
PhD (Genetics)
University of Aberdeen, UK, 1995.
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Description of Research Expertise

I have been conducting human genomics research for over 25 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 inflammatory bowel disease, autism and type 1 diabetes.

As a primary faculty member in both the Departments of Genetics and Pediatrics, and 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, diabetes and sleep. 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/MPI:
R01 HD056465, R01 AG057516, R01 HD100406, R01 DK122586, R01 AG072705, R01 AA030056, UM1 DK126194, Daniel B. Burke Endowed Chair for Diabetes Research
(Completed: R01 HL143790, R01 DK085212, R21 HD089824, R01 HD058886)

Funding as Co-investigator:
R01 AI154773, R01 AI146026, R01 AR056837, R01 AR069055, R01 AR076241, R01 DK097830, R01 DK056268, R01 EY023557, P01 HL160471, U01 DK135002

Current Research Team:
Jonathan P. Bradfield, Winter S. Bruner, Catherine L. May, Matthew C. Pahl, James A. Pippin, Molly Ridler, Khanh B. Trang, Christina M. Volpe, Nicholas A. Wachowski, Amber J. Zimmerman
GRADUATE STUDENTS: Elizabeth A. Burton, Mitchell Conery, Max Dudek, Mary Ann Weidekamp

Former members: Mariana Argenziano, Keith Boehm, Alessandra Chesi, Kieona Cook, K. Sonal R. Choudhary, Diana L. Cousminer, Sandra Deliard, Matthew E. Johnson, Vanessa C. Guy, Reza K. Hammond, Kenyaita M. Hodge, Brian T. Johnston, Chiara Lasconi, Michelle E. Leonard, Sumei Lu, Elisabetta Manduchi, Ursula W. Parlin, Shilpa Sonti, Chun Su, Qianghua Xia, Jianhua Zhao
FORMER GRADUATE STUDENTS: Rajashree Mishra (GSK), Sheridan H. Littleton (University of Cambridge)

Selected Publications

S.H. Littleton, K.B. Trang, C.M. Volpe, K. Cook, N. DeBruyne, J.A. Maguire, M.A. Weidekamp, K.M. Hodge, K. Boehm, S. Lu, A. Chesi, J.P. Bradfield, J.A. Pippin, S.A. Anderson, A.D. Wells, M.C. Pahl and S.F.A. Grant: Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3’ UTR of FAIM2. Cell Genomics 4: 100556, 2024.

M.C. Pahl*, L. Liu*, J.A. Pippin, Y. Wagley, K. Boehm, K.D. Hankenson, A.D. Wells, W. Yang* and S.F.A. Grant*: Variant to gene mapping for carpal tunnel syndrome risk loci implicates skeletal muscle regulatory elements. eBioMedicine 101: 105038, 2024 Notes: *equal contribution.

S.H. Littleton and S.F.A. Grant: Metabolic links between milk, genes and gut. Nature Metabolism 6: 12–13, 2024.

J.P. Bradfield, R.L. Kember, A. Ulrich, Z. Balkiyarova, A. Alyass, I.M. Aris, J.A. Bell, K.A. Broadaway, Z. Chen, J-F. Chai, N.M. Davies, D. Fernandez-Orth, M. Bustamante, R. Fore, A. Ganguli, A. Heiskala, J-J. Hottenga, C. Íñiguez, S. Kobes, J. Leinonen, E. Lowry, L-P. Lyytikainen, A. Mahajan, N. Pitkänen, T.M. Schnurr, C. Theil Have, D.P. Strachan, E. Thiering, S. Vogelezang, K.H. Wade, C.A. Wang, A. Wong, L.A. Holm, A. Chesi, C. Choong, M. Cruz, P. Elliott, S. Franks, C. Frithioff-Bøjsøe, W.J. Gauderman, J.T. Glessner, V. Gilsanz, K. Griesman, R.L. Hanson, M. Kaakinen, H. Kalkwarf, A. Kelly, J. Kindler, M. Kähönen, C. Lanca, J. Lappe, N.R. Lee, S. McCormack, F.D. Mentch, J.A. Mitchell, N. Mononen, H. Niinikoski, E. Oken, K. Pahkala, X. Sim, Y-Y. Teo, L.J. Baier, T. van Beijsterveldt, L.S. Adair, D.I. Boomsma, E. de Geus, M. Guxens, J.G. Eriksson, J.F. Felix, F.D. Gilliland, Penn Medicine Biobank, T. Hansen, R. Hardy, M-F. Hivert, J-C. Holm, V.W.V. Jaddoe, M-R. Järvelin, T. Lehtimäki, D.A. Mackey, D. Meyre, K.L. Mohlke, J. Mykkänen, S. Oberfield, C.E. Pennell, J.R.B. Perry, O. Raitakari, F. Rivadeneira, S-M. Saw, S. Sebert, J.A. Shepherd, M. Standl, T.I.A. Sørensen, N.J. Timpson, M. Torrent, G. Willemsen, E. Hypponen, C. Power, The Early Growth Genetics Consortium, M.I. McCarthy, R.M. Freathy, E. Widén, H. Hakonarson, I. Prokopenko, B.F. Voight, B.S. Zemel, S.F.A. Grant* and D.L. Cousminer*: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes. Genome Biology 25: 22, 2024 Notes: *Corresponding author.

C. Su, L. Gao, C.L. May, J.A. Pippin, K. Boehm, M. Lee, C. Liu, M.C. Pahl, M.L. Golson, A. Naji, The Human Pancreas Analysis Consortium, S.F.A. Grant*, A.D. Wells* and K.H. Kaestner*: The three-dimensional chromatin structure of the major human pancreatic cell types reveals lineage-specific regulatory architecture of T2D risk. Cell Metabolism 34: 1394–1409, 2022 Notes: *equal contribution.

M.C. Pahl*, C.A. Doege*, K.M. Hodge*, S.H. Littleton*, M.E. Leonard, S. Lu, R. Rausch, J.A. Pippin, M. Caterina De Rosa, A. Basak, J.P. Bradfield, R.K. Hammond, K. Boehm, R.I. Berkowitz, C. Lasconi, C. Su, A. Chesi, M.E. Johnson, A.D. Wells, B.F. Voight, R.L. Leibel, D.L. Cousminer* and S.F.A. Grant*: Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant common complex traits. Nature Communications 12: 6749, 2021 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.

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: 203-5, 1996.

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Last updated: 06/06/2024
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