Searchable abstracts of presentations at key conferences in endocrinology

ea0011s57 | Monogenic disorders illuminate metabolic disease | ECE2006

Learning from monogenic diabetes: insights into the fetal and adult beta-cell

Hattersley AT

The molecular genetics of monogenic diabetes have been defined in the last decade. Most of these genes result in beta-cell dysfunction. Studying these patients has given new insights into the role of key genes in the fetal and adult beta-cell.Hepatic Nuclear Factor (HNF)-1β mutations causing renal cysts and diabetes (RCAD). HNF-1β mutations are associated with reduced beta-cell development resulting in diabetes, exoc...

ea0003s15 | Vascular Risk in Diabetes - Genetic and Environmental Interactions | BES2002

Genetic basis of type 2 diabetes

Hattersley A

Genetic factors play a critical role in Type 2 diabetes as shown by family, twin and migration studies. Whilst the rising prevalence of Type 2 diabetes reflects increasing food intake and reduced exercise it is the genetically susceptible individuals and races who are most likely to develop diabetes. Recent evidence has supported a genetic rather than the "fetal malnutrition" explanation of the association of low birth weight with diabetes. Low birth weight in the offspring of...

ea0019s8 | Society for Endocrinology Medal Lecture | SFEBES2009

New genes, new diabetes and new treatments

Hattersley Andrew

Defining the molecular genetics of diabetes gives new insight into the underlying aetiology. Recent work in Type 2 diabetes has suggested that the majority of genes to date result in beta-cell dysfunction but the impact of each polymorphism is relatively modest. In contrast patients with beta-cell monogenic diabetes have beta-cell dysfunction as the result of mutation of a single gene and these allow new insights into subtypes of beta-cell dysfunction and their therapeutic res...

ea0019s8biog | Society for Endocrinology Medal Lecture | SFEBES2009

Society for Endocrinololgy Medal Lecture

Hattersley Andrew

Andrew Hattersley, Peninsula Medical School, Plymouth, UK AbstractAndrew Hattersley qualified from Oxford in 1984. He trained in Diabetes at the Hammersmith Hospital, Oxford and Birmingham before taking up his present post as a consultant Diabetologist in Exeter in 1995.His principal area of research is the molecular genetics of diabetes with a particular emphasis on monogenic diabetes. He has ta...

ea0016pl5 | Too little and too much insulin – lessons to learn from newborns | ECE2008

Too little and too much insulin: lessons from newborns

Hattersley Andrew

Insulin is a crucial growth factor in utero as well as the key post natal determinant of blood glucose. Mutations in beta-cell genes altering insulin secretion therefore present with both altered birth weight and also hyper or hypoglycaemia. Recent advances in the genetics of neonatal diabetes and neonatal hyperinsulinism give key insights to beta-cell physiology as well as offering improved clinical management.In the genes encoding key beta-cell ...

ea0007p309 | Clinical practice | BES2004

Mutation testing in multiple endocrine neoplasia (MEN1): an audit

Vaidya B , Hattersley A , Ellard S

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by various combinations of tumours of the parathyroid, enteropancreatic and anterior pituitary glands. With the identification of the MEN1 gene, the genetic diagnosis of this condition is now possible. In this study, we have examined whether different clinical presentations of MEN1 are more likely to yield positive mutation result.Methods: We analysed t...

ea0004dp34 | Diabetes, metabolism and cardiovascular | SFE2002


Owen K , Ellard S , Hattersley A

Diabetes arising in young adulthood has a wide differential diagnosis, including autoimmune and genetic causes as well as young onset type 2 diabetes (YT2D). Specific features may be associated with each of these groups, but they cannot be differentiated from YT2D by mode of presentation. Family history, clinical characteristics and laboratory investigations provide complementary strategies to help dissect different known aetiologies.We studied 268 UK Ca...

ea0051oc7.2 | Oral Communications 7 | BSPED2017

Use of human pluripotent stem cells to model monogenic diabetes

El-Khairi Ranna , Hattersley Andrew , Vallier Ludovic

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1b (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of diabetes in HNF1B mutation carriers are still not fully understood due to lack of an appropriate animal model system. Human pluripotent stem cells (PSCs), which are capable of self-renewal and can differentiate into any cell type, ar...