Anna Gloyn

Anna L Gloyn, DPhil, Professor, Department of Pediatrics, Division of Endocrinology and Diabetes; Professor, Department of Genetics; Associate Chair for Basic Science Research, Department of Pediatrics, Stanford University School of Medicine

Research Description: Dr Gloyn’s research uses human genetics as a tool to understand cellular and molecular mechanisms for pancreatic beta cell failure in diabetes and related conditions. She joined the Stanford faculty in 2020. She deploys a number of complementary approaches, including functional genomics, human cell models and integrative physiology to study both monogenic forms of diabetes due to rare mutations which are causal for disease through to common variants present in most of the population which increase an individual’s risk for developing diabetes. The aim of her research is to capitalize on an improved mechanistic understanding of pancreatic islet cell dysfunction to improve treatment options for patients via the identification of safe and effective therapeutic targets (drug development) and patient stratification (precision medicine). Dr Gloyn is a leader in efforts to discover the genetic basis of Type 2 diabetes and related glycemic traits, including the NIDDK funded Accelerated Medicines Partnership for Type 2 Diabetes (AMP-T2D), and is the co-lead for the International Common Disease Alliance (ICDA) Flagship Disease (Diabetes) working group. Her research has direct translational relevance evidenced by her roles on both the ClinGen Expert Review Group for Variant Curation for Monogenic Diabetes and role as chair and co-lead for Precision Diagnostics in Monogenic Diabetes for the American Diabetes Association Precision Medicine Working group. Dr Gloyn is also on the executive committee of the Atlas of Variant Effects (AVE) Alliance which is advancing the systematic measurement of sequence variation in clinically actionable genes, including those involved in monogenic diabetes. She is co-leader of the Pancreas and Islet Research Affinity Group of SDRC.

Selected relevant publications (SDRC members in BOLD):

  1. Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation. Am J Hum Genet. 2020 Oct 1;107(4):670-682. PMID: 32910913 

  2. Misra S, Hassanali N, Bennett AJ, Juszczak A, Caswell R, Colclough K, Valabhji J, Ellard S, Oliver NS, Gloyn AL. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care. 2020;43(4):909-12. PMID: 32001615 

  3. Dwivedi OP, Lehtovirta M, Hastoy B, Chandra V, Krentz NAJ, Kleiner S, Jain D, Richard AM, Abaitua F, Beer NL, Grotz A, Prasad RB, Hansson O, Ahlqvist E, Krus U, Artner I, Suoranta A, Gomez D, Baras A, Champon B, Payne AJ, Moralli D, Thomsen SK, Kramer P, Spiliotis I, Ramracheya R, Chabosseau P, Theodoulou A, Cheung R, van de Bunt M, Flannick J, Trombetta M, Bonora E, Wolheim CB, Sarelin L, Bonadonna RC, Rorsman P, Davies B, Brosnan J, McCarthy MI, Otonkoski T, Lagerstedt JO, Rutter GA, Gromada J, Gloyn AL*, Tuomi T*, Groop L*. Loss of ZnT8 function protects against diabetes by enhanced insulin secretion. Nat Genet. 2019;51(11):1596-606. * Joint senior authors PMID: 31676859 

  4. Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Payne AJ, Steinthorsdottir V, Scott RA, Grarup N, Cook JP, Schmidt EM, Wuttke M, Sarnowski C, Mägi R, Nano J, Gieger C, Trompet S, Lecoeur C, Preuss MH, Prins BP, Guo X, Bielak LF, Below JE, Bowden DW, Chambers JC, Kim YJ, Ng MCY, Petty LE, Sim X, Zhang W, Bennett AJ, Bork-Jensen J, Brummett CM, Canouil M, Ec Kardt KU, Fischer K, Kardia SLR, Kronenberg F, Läll K, Liu CT, Locke AE, Luan J, Ntalla I, Nylander V, Schönherr S, Schurmann C, Yengo L, Bottinger EP, Brandslund I, Christensen C, Dedoussis G, Florez JC, Ford I, Franco OH, Frayling TM, Giedraitis V, Hackinger S, Hattersley AT, Herder C, Ikram MA, Ingelsson M, Jørgensen ME, Jørgensen T, Kriebel J, Kuusisto J, Ligthart S, Lindgren CM, Linneberg A, Lyssenko V, Mamakou V, Meitinger T, Mohlke KL, Morris AD, Nadkarni G, Pankow JS, Peters A, Sattar N, Stančáková A, Strauch K, Taylor KD, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tuomilehto J, Witte DR, Dupuis J, Peyser PA, Zeggini E, Loos RJF, Froguel P, Ingelsson E, Lind L, Groop L, Laakso M, Collins FS, Jukema JW, Palmer CNA, Grallert H, Metspalu A, Dehghan A, Köttgen A, Abecasis GR, Meigs JB, Rotter JI, Marchini J, Pedersen O, Hansen T, Langenberg C, Wareham NJ, Stefansson K, Gloyn AL#, Morris AP, Boehnke M, McCarthy MI. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet. 2018;50(11):1505-13. #lead for functional studies [Citations 462] PMID: 30297969 

  5. Thomsen SK, Raimondo A, Hastoy B, Sengupta S, Dai XQ, Bautista A, Censin J, Payne AJ, Umapathysivam MM, Spigelman AF, Barrett A, Groves CJ, Beer NL, Manning Fox JE, McCarthy MI, Clark A, Mahajan A, Rorsman P, MacDonald PE, Gloyn AL. Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic beta-cells. Nat Genet. 2018;50(8):1122-31. PMID: 30054598 

  6. Russ-Silsby J, Lee Y, Rajesh V, Amoli M, Mirhosseini NA, Godbole T, Johnson MB, Ibarra DE, Sun H, Krentz NAJ, Wakeling MN, Flanagan SE, Hattersley AT, Gloyn AL, De Franco E. Complete loss of PAX4 causes transient neonatal diabetes in humans. Mol Metab. 2025 Sep;99:102201. doi: 10.1016/j.molmet.2025.102201. Epub 2025 Jul 2. PMID: 40614820; PMCID: PMC12275979. 

  7. Luckett AM, Oram RA, Deutsch AJ, Ortega HI, Fraser DP, Ashok K, Manning AK, Mercader JM, Rivas MA, Udler MS, Weedon MN, Gloyn AL, Sharp SA. Standardized Measurement of Type 1 Diabetes Polygenic Risk Across Multiancestry Population Cohorts. Diabetes Care. 2025 Jun 1;48(6):e81-e83. doi: 10.2337/dc25-0142. PMID: 40267362; PMCID: PMC12094190. 

  8. Metwally AA, Perelman D, Park H, Wu Y, Jha A, Sharp S, Celli A, Ayhan E, Abbasi F, Gloyn AL, McLaughlin T, Snyder M. Predicting Type 2 Diabetes Metabolic Phenotypes Using Continuous Glucose Monitoring and a Machine Learning Framework. medRxiv [Preprint]. 2024 Sep 9:2024.07.20.24310737. doi: 10.1101/2024.07.20.24310737. PMID: 39108516; PMCID: PMC11302614. 

  9. Yu GZ, Krentz NAJ, Bentley L, Zhao M, Paphiti K, Sun H, Honecker J, Nygård M, Dashti H, Bai Y, Reid M, Thaman S, Wabitsch M, Rajesh V, Yang J, Mattis KK, Abaitua F, Casero R, Hauner H, Knowles JW, Wu JY, Mandrup S, Claussnitzer M, Svensson KJ, Cox RD, Gloyn AL. Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes. bioRxiv [Preprint]. 2024 Jul 31:2024.07.30.605923. doi: 10.1101/2024.07.30.605923. PMID: 39131393; PMCID: PMC11312556. 

  10. Gloyn AL, Ibberson M, Marchetti P, Powers AC, Rorsman P, Sander M, Solimena M. Every islet matters: improving the impact of human islet research. Nat Metab. 2022 Aug;4(8):970-977. doi: 10.1038/s42255-022-00607-8. Epub 2022 Aug 11. Erratum in: Nat Metab. 2024 Jul;6(7):1415. doi: 10.1038/s42255-024-01091-y. PMID: 35953581; PMCID: PMC11135339. 

  11. Alghamdi TA, Krentz NAJ, Smith N, Spigelman AF, Rajesh V, Jha A, Ferdaoussi M, Suzuki K, Yang J, Manning Fox JE, Sun H, Sun Z, Gloyn AL, MacDonald PE. Zmiz1 is required for mature β-cell function and mass expansion upon high fat feeding. Mol Metab. 2022 Dec;66:101621. doi: 10.1016/j.molmet.2022.101621. Epub 2022 Oct 26. PMID: 36307047; PMCID: PMC9643564. 

  12. Zhang H, Colclough K, Gloyn AL, Pollin TI. Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest. 2021 Feb 1;131(3):e142244. doi: 10.1172/JCI142244. PMID: 33529164; PMCID: PMC7843214. 

  13. Kim DS, Gloyn AL, Knowles JW. Genetics of Type 2 Diabetes: Opportunities for Precision Medicine: JACC Focus Seminar. J Am Coll Cardiol. 2021 Aug 3;78(5):496-512. doi: 10.1016/j.jacc.2021.03.346. PMID: 34325839; PMCID: PMC8328195. 

  14. Ikle JM, Gloyn AL. 100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function. J Endocrinol. 2021 Jul 22;250(3):R23-R35. doi: 10.1530/JOE-21-0067. PMID: 34196608; PMCID: PMC9037733. 

  15. Jaffredo M, Krentz NAJ, Champon B, Duff CE, Nawaz S, Beer N, Honore C, Clark A, Rorsman P, Lang J, Gloyn AL, Raoux M, Hastoy B. Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human β-Like Cells and an SLC30A8 Disease Model. Diabetes. 2024 Aug 1;73(8):1255-1265. doi: 10.2337/db23-0776. PMID: 38985991; PMCID: PMC11262041. 

  16. Ewald JD, Lu Y, Ellis CE, Worton J, Kolic J, Sasaki S, Zhang D, Dos Santos T, Spigelman AF, Bautista A, Dai XQ, Lyon JG, Smith NP, Wong JM, Rajesh V, Sun H, Sharp SA, Rogalski JC, Moravcova R, Cen HH, Manning Fox JE; HumanIslets.com Consortium; Atlas E, Bruin JE, Mulvihill EE, Verchere CB, Foster LJ, Gloyn AL, Johnson JD, Pepper AR, Lynn FC, Xia J, MacDonald PE. HumanIslets.com: Improving accessibility, integration, and usability of human research islet data. Cell Metab. 2025 Jan 7;37(1):7-11. doi: 10.1016/j.cmet.2024.09.001. Epub 2024 Oct 1. PMID: 39357523. 

  17. Ortega HI, Udler MS, Gloyn AL, Sharp SA. Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation. Nat Rev Endocrinol. 2025 Sep;21(9):530-545. doi: 10.1038/s41574-025-01132-w. Epub 2025 Jun 4. PMID: 40467969. 

  18. Stalbow LA, Preuss MH, Smit RAJ, Chami N, Bjørkhaug L, Aukrust I, Gloyn AL, Loos RJF. The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. Diabetologia. 2023 Jan;66(1):116-126. doi: 10.1007/s00125-022-05806-2. Epub 2022 Oct 11. PMID: 36216889; PMCID: PMC9729131. 

  19. Lau HH, Krentz NAJ, Abaitua F, Perez-Alcantara M, Chan JW, Ajeian J, Ghosh S, Lee Y, Yang J, Thaman S, Champon B, Sun H, Jha A, Hoon S, Tan NS, Gardner DS, Kao SL, Tai ES, Gloyn AL, Teo AKK. PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development. Nat Commun. 2023 Sep 30. PMID: 37777536; PMCID: PMC10542369. 

  20. Bevacqua RJ, Zhao W, Merheb E, Kim SH, Marson A, Gloyn AL, Kim SK. Multiplexed CRISPR gene editing in primary human islet cells with Cas9 ribonucleoprotein. iScience. 2023 Dec 8. PMID: 38205242; PMCID: PMC10777115. 

  21. Rottner AK, Ye Y, Navarro-Guerrero E, Rajesh V, Pollner A, Bevacqua RJ, Yang J, Spigelman AF, Baronio R, Bautista A, Thomsen SK, Lyon J, Nawaz S, Smith N, Wesolowska-Andersen A, Fox JEM, Sun H, Kim SK, Ebner D, MacDonald PE, Gloyn AL. A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk. Nat Genet. 2023 Jan;55(1):54-65. PMID: 36543916; PMCID: PMC9839450. 

  22. Wu X, Chen PI, Whitener RL, MacDougall MS, Coykendall VMN, Yan H, Kim YB, Harper W, Pathak S, Iliopoulou BP, Hestor A, Saunders DC, Spears E, Sévigny J, Maahs DM, Basina M, Sharp SA, Gloyn AL, Powers AC, Kim SK, Jensen KP, Meyer EH. CD39 delineates chimeric antigen receptor regulatory T cell subsets with distinct cytotoxic & regulatory functions against human islets. Front Immunol. 2024 Jun 28;15:1415102. doi: 10.3389/fimmu.2024.1415102. PMID: 39007132; PMCID: PMC11239501. 

  23. Cefalu WT, Franks PW, Rosenblum ND, Zaghloul NA, Florez JC, Giorgino F, Ji L, Ma RCW, Mathieu C, Misra S, Ramirez AH, Roden M, Scherer PE, Sheu WH, Stehouwer CDA, Woo M, Pragnell M, Anand SS, Carnethon M, Chambers JC, Dennis JM, Gloyn AL, Herder C, Holt RIG, Manuel DG, Redondo MJ, Tandon N, Tsang JS, Udler MS, Rich SS. A global initiative to deliver precision health in diabetes. Nat Med. 2024 Jul;30(7):1819-1822. doi: 10.1038/s41591-024-03032-4. PMID: 38992126; PMCID: PMC12066165. 

  24. Abel ED, Gloyn AL, Evans-Molina C, Joseph JJ, Misra S, Pajvani UB, Simcox J, Susztak K, Drucker DJ. Diabetes mellitus-Progress and opportunities in the evolving epidemic. Cell. 2024 Jul 25;187(15):3789-3820. doi: 10.1016/j.cell.2024.06.029. PMID: 39059357; PMCID: PMC11299851. 

  25. Metwally AA, Perelman D, Park H, Wu Y, Jha A, Sharp S, Celli A, Ayhan E, Abbasi F, Gloyn AL, McLaughlin T, Snyder MP. Prediction of metabolic subphenotypes of type 2 diabetes via continuous glucose monitoring and machine learning. Nat Biomed Eng. 2024 Dec 23:10.1038/s41551-024-01311-6. doi: 10.1038/s41551-024-01311-6. Epub ahead of print. PMID: 39715896; PMCID: PMC12183321.