Anna Gloyn

Anna L Gloyn, DPhil, Professor, Department of Pediatrics, Division of Endocrinology and Diabetes; Professor (by courtesy), 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