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个人简介

Prof Andrew Hattersley FRS is an outstanding clinical scientist, who is distinguished for his contributions to the understanding of the genetics of diabetes and the application of that knowledge to clinical practice. He became Gillings Chair in Precision Medicine in 2015 and leads the Precision medicine initiative in Exeter working with both scientific and clinical colleagues. He and Prof Sian Ellard set up and currently head the premier international research team working on monogenic diabetes and has palyed a major role in the UK research effort into the genetics of type 2 diabetes. He continues to work as a consultant physician in diabetes while at the same time leading a large research team. His research combines state-of-the-art molecular genetics with physiological and clinical investigations in patients. He uses the accidents of nature that cause monogenic diabetes to understand the critical role of the gene product in man, in a similar fashion to many laboratory scientists who study knockout animals. A key theme of his approach is that his scientific discoveries are rapidly and effectively translated into improvements in clinical care. Qualifications 1998 - Fellow of the Royal College of Physicians, London, UK 1997 - D.M. Oxford University “The genetics of Type 2 diabetes” 1984 - BM BCh Oxford University 1981 - B.A. Cambridge University UK

研究领域

Professor Andrew Hattersley is a clinical researcher whose work on diabetes combines state-of-the-art molecular genetics, physiological studies and clinical observations to generate important scientific insights. He is medically trained, still clinically active, and reknowned for his ability to translate his basic science discoveries into advances in patient care. His medical degree was obtained at Cambridge (pre-clinical) and Oxford (clinical). After general medical training in London, he undertook post-graduate training in diabetes at the Hammersmith hospital and Birmingham. His scientific research career began as an MRC training fellow in Oxford in 1990, working with Professor Turner, Dr Wainscoat and Professor Weatherall on clinical, physiological and molecular biological aspects of maturity-onset diabetes of the young (MODY). This work led to the identification of glucokinase as the first gene to cause diabetes (simultaneously with a French group). It also instilled Hattersley with a life-long interest in monogenic diabetes. He continued this work as a lecturer in Birmingham for 2 years, and then moved to a senior lecturership and consultant physician post at Exeter (1995). Hattersley rapidly transformed Exeter from a centre without a genetics lab to being the premier international centre for monogenic diabetes. He now leads a 29-person research team that integrates cutting-edge scientific research with an NHS diagnostic laboratory, and routine patient care in diabetes. His major contribution in the past 10 years has been to define the genetic aetiology of monogenic diabetes and, by studying these patients, to improve our knowledge of the development, function and regulation of the insulin-secreting pancreatic beta-cells. This work, both independently and in collaboration with others, has led to the identification of >10 genes that cause neonatal diabetes. Discovery of the causal role of activating mutations in KATP channel genes in neonatal diabetes (2004) immediately led to the possibility that sulphonylurea drugs, which close the channel, might stimulate insulin secretion in these patients. Hattersley subsequently demonstrated that these drugs produce excellent glycaemic control without hypoglycaemia (2006). This work led to the rewriting of international guidelines for all patients diagnosed with diabetes before 6 months to include immediate genetic diagnosis. Hattersley now offers rapid, free, genetic testing patients with neonatal diabetes. As a result, >1200 patients from over 80 countries have now switched from insulin injections to oral sulphonylurea therapy. Hattersley has developed and assessed biomarkers and diagnostic approaches for the diagnosis of MODY (2010-2013). His work on the treatment and management of the different subgroups of MODY has transformed international guidelines. Recent work has led to a greater understanding of the role and regulation of transcription factors in beta-cell development and function (2009-2013). His work has not been confined to monogenic diabetes: from 1995-2008 he co-led the UK research effort to identify genetic polymorphisms that predispose to Type 2 diabetes including FTO the major polymorphism predisposing to obesity. Latterly, this work has provided novel insights into the relationship between birth weight and diabetes in later life (2007-2012). Current studies include the development and implementation of a personalised approach to the treatment of Type 2 diabetes.

近期论文

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Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text. Hope S, Wienand-Barnett S, Shepherd M, King S, Fox C, Khunti K, Oram R, Knight B, Hattersley A, Jones A, et al (In Press). Assessment of Practical Classification Guidelines for Diabetes in insulin-treated patients. British Journal of General Practice Full text. Jones AG, mcdonald TJ, Shields BM, Hill AV, Hyde CJ, Knight BA, Hattersley AT (In Press). Markers of beta cell failure predict poor glycemic response to GLP-1 receptor agonist therapy in type 2 diabetes. Diabetes Care Full text. Hattersley AT, Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Flanagan SE, Ellard S (In Press). Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinoyl Metabolism Full text. Oram RA, Patel K, Hill A, Shields B, McDonald TJ, Jones A, Hattersley AT, Weedon MN (2016). A Type 1 Diabetes Genetic Risk Score can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care, 39(3), 337-344. Abstract. Author URL. Full text. Article has an altmetric score of 92 McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, 48(10), 1279-1283. Abstract. Author URL. Full text. Article has an altmetric score of 180 Farmer AJ, Rodgers LR, Lonergan M, Shields B, Weedon MN, Donnelly L, Holman RR, Pearson ER, Hattersley AT, MASTERMIND Consortium, et al (2016). Adherence to Oral Glucose-Lowering Therapies and Associations with 1-Year HbA1c: a Retrospective Cohort Analysis in a Large Primary Care Database. Diabetes Care, 39(2), 258-263. Abstract. Author URL. Full text. Article has an altmetric score of 6 De Franco E, Caswell R, Houghton JA, Iotova V, Hattersley AT, Ellard S (2016). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med Abstract. Author URL. Full text. Williams GM, Long AE, Wilson IV, Aitken RJ, Wyatt RC, McDonald TJ, Wong FS, Hattersley AT, Williams AJ, Bingley PJ, et al (2016). Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes. Diabetologia Abstract. Author URL. Article has an altmetric score of 11 Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, et al (2016). Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes, 17(5), 360-367. Abstract. Author URL. Full text. Article has an altmetric score of 3 Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, et al (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract. Author URL. Full text. Article has an altmetric score of 1 Angwin C, Pearson E, Hattersley A (2016). Crossover studies can help the individualisation of care in type 2 diabetes: the MASTERMIND approach. Practical Diabetes, 33(4), 115-117. Full text. Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (2016). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract. Author URL. Full text. Article has an altmetric score of 4 Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NMG, et al (2016). Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. JAMA, 315(11), 1129-1129. Full text. Article has an altmetric score of 426 Yaghootkar H, Lotta LA, Tyrrell J, Smit RA, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract. Author URL. Full text. Article has an altmetric score of 125 Rubio-Cabezas O, Gómez JL, Gleisner A, Hattersley AT, Codner E (2016). Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency. J Clin Endocrinol Metab, 101(10), 3555-3558. Abstract. Author URL. Full text. Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract. Author URL. Full text. Article has an altmetric score of 2 Knight BA, Shields BM, Hattersley AT, Vaidya B (2016). Maternal hypothyroxinaemia in pregnancy is associated with obesity and adverse maternal metabolic parameters. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 174(1), 51-57. Author URL. Full text. Article has an altmetric score of 2 Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract. Author URL. Full text. Article has an altmetric score of 2 Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM (2016). Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia, 59(7), 1430-1436. Abstract.

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