Hetal Shah
- Genetics and Epidemiology
Research Associate
Instructor in Medicine, Harvard Medical School
Dr. Shah is a Research Associate in the Section on Genetics and Epidemiology, and in the Section on Vascular Cell Biology at Joslin Diabetes Center. She is also an Instructor in Medicine at Harvard Medical School. Dr. Shah received her medical degree from Manipal University, India, and her Master of Public Health in Epidemiology from Boston University School of Public Health. Prior to being appointed as a junior faculty member at Joslin, Dr. Shah completed her post-doctoral research training under the mentorship of Professor Alessandro Doria at Joslin Diabetes Center. Dr. Shah is currently a member of the ACCORD Genetic Study Group, and is the lead Epidemiologist of the Joslin 50-year Medalist Study.
Dr. Shah’s post-doctoral research focus was on leveraging the power of genetics to prevent diabetic complications. She is well-versed in using complex genetic tools to conduct genome-wide association studies and has developed models to study gene-environment interactions for a wide range of diabetes complications including cardiovascular disease, nephropathy, retinopathy, and neuropathy. She discovered two genetic markers that can help identify individuals with type 2 diabetes that would experience cardiovascular benefits of an intensive glycemic therapeutic regimen (Diabetes Care, 2016). Her work also led to the discovery of the potential role of the GLP-1 pathway underlying the modifying effects of one these genetic markers (Diabetes Care, 2018). These genetic markers could be used in personalized medicine algorithms to optimize the use of resources by treating those who would most benefit and receive the least harm from therapies.
Over the past three years as faculty at Joslin, Dr. Shah has been the lead Epidemiologist of the Joslin 50-year Medalist Study, a cohort of individuals with 50+ years of type 1 diabetes that was founded by Professor George King. Along with Dr. King and the Medalist study team, Dr. Shah strives to search for protective factors against complications in this cohort. They recently published on Pyruvate Kinase M2 (PKM2) as a potential protective factor against diabetic nephropathy (Diabetes Care, 2019). Furthermore, they reported on the possible presence of monogenic variants underlying residual beta-cell function in this cohort, with the potential clinical implication of recommending screening of type 1 populations for monogenic diabetes (Journal of Clinical Investigation, 2019).
Dr. Shah’s research interests also extend to metabolomics and proteomics studies of diabetic complications. These studies could provide early biomarkers of such complications, or provide new insights into their pathogenesis to inform better drug targets. For instance, she was part of Dr. Monika Niewczas’ team that discovered a signature of inflammatory proteins for end-stage renal disease in diabetes (Nature Medicine, 2019).
Fellowship: Joslin Diabetes Center
Bachelor of Medicine, Bachelor of Surgery: Manipal University (India)
Master of Public Health: Boston University School of Public Health
Complete List of Published Work
Some important publications:
- Shah HS, Gao H, Morieri ML, Skupien J, Marvel S, Paré G, Mannino GC, Buranasupkajorn P, Mendonca C, Hastings T, Marcovina SM, Sigal RJ, Gerstein HC, Wagner MJ, Motsinger-Reif AA, Buse JB, Kraft P, Mychaleckyj JC, Doria A. Genetic Predictors of Cardiovascular Mortality During Intensive Glycemic Control in Type 2 Diabetes: Findings From the ACCORD Clinical Trial. Diabetes Care. 2016 Nov;39(11):1915-1924. PMCID: PMC5079609
- Shah HS, Morieri ML, Marcovina SM, Sigal RJ, Gerstein HC, Wagner MJ, Motsinger-Reif AA, Buse JB, Kraft P, Mychaleckyj JC, Doria A. Modulation of GLP-1 levels by a genetic variant that regulates the cardiovascular effects of intensive glycemic control in ACCORD. Diabetes Care 2018;41:348-355. PMCID: PMC5780047
- Morieri ML, Gao H, Pigeyre M, Shah HS, Sjaarda J, Mendonca C, Hastings T, Buranasupkajorn P, Motsinger-Reif AA, Rotroff DM, Sigal RJ, Marcovina SM, Kraft P, Buse JB, Wagner MJ, Gerstein HC, Mychaleckyj JC, Parè G, Doria A. Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial. Diabetes Care. 2018 Nov;41(11):2404-2413. PMCID: PMC6196830
- Monika A. Niewczas, Meda E. Pavkov, Jan Skupien, Adam Smiles, Zaipul I. Md. Dom, Jonathan M. Wilson, Jihwan Park, Viji Nair, Andrew Schlafly, Pierre-Jean Saulnier, Eiichiro Satake, Christopher A. Simeone, Hetal Shah, Chengxiang Qiu, Helen C Looker, Paolo Fiorina, Carl F. Ware, Jennifer Sun, Alessandro Doria, Matthias Kretzler, Katalin Susztak, Kevin L. Duffin, Robert G. Nelson, and Andrzej S. Krolewski. A Signature of Circulating Inflammatory Proteins Enriched for TNF Receptor Superfamily and High Risk of ESRD in Diabetes. Nature Medicine. 2019 May; 25(5):805-813. PMCID: PMC6508971
- Daniel Gordin*, Hetal Shah* , Takanori Shinjo, Ronald St-Louis, Weier Qi, Kyoungmin Park, Samantha M. Paniagua, David M. Pober, I-Hsien Wu, Vanessa Bahnam, Megan J. Brissett, Liane J. Tinsley, Jonathan M. Dreyfuss, Hui Pan, Yutong Dong, Monika A Niewczas, Peter Amenta, Thorsten Sadowski, Aimo Kannt, Hillary A. Keenan, George L. King. Characterization of glycolytic enzymes and pyruvate kinase M2 in type 1 and 2 diabetic nephropathy. Diabetes Care. 2019 Jul;42(7):1263-1273. PMCID: PMC6609957. *Co-first authors.
- Marc Gregory Yu, Hillary A. Keenan, Hetal S. Shah, Scott G. Frodsham, David Pober, Zhiheng He, Emily A. Wolfson, Stephanie D’Eon, Liane J. Tinsley, Susan Bonner-Weir, Marcus G. Pezzolesi, and George Liang King. Residual beta-cell function and monogenic variants in long-duration type 1 diabetes patients. J Clin Invest. 2019 Jul 2; 29(8):3252-326. PMCID: PMC6668678
- Tang Y, Lenzini PA, Busui RP, Ray PR, Campbell H, Perkins BA, Callaghan B, Wagner MJ, Motsinger-Reif AA, Buse JB, Price TJ, Mychaleckyj JC, Cresci S, Shah H*, Doria A*. A Genetic Locus on Chromosome 2q24 Predicting Peripheral Neuropathy Risk in Type 2 Diabetes: Results From the ACCORD and BARI 2D Studies. 2019 Aug;68(8):1649-1662. PMCID: PMC6692816 *Corresponding authors.
- Mario Luca Morieri, Hetal S Shah, Jennifer Sjaarda, Petra A Lenzini, Hannah Campbell, Alison A Motsinger-Reif, He Gao, Laura Lovato, Sabrina Prudente, Assunta Pandolfi, Marcus G Pezzolesi, Ronald J Sigal, Guillaume Paré, Santica M Marcovina, Daniel M Rotroff, Elisabetta Patorno, Luana Mercuri, Vincenzo Trischitta, Emily Y Chew, Peter Kraft, John B Buse, Michael J Wagner, Sharon Cresci, Hertzel C Gerstein, Henry N Ginsberg, Josyf C Mychaleckyj, Alessandro Doria. A PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD Lipid. Diabetes 2020; Jan 23 [Online ahead of print]. PMID: 3197414