Temple, Karen - University of Southampton

个人简介

Professor Karen Temple is Director of the Academic Unit of Human Development and Health leading a large group of scientists, cllinicians and students in human developmental medical sciences. She is the Professor of Medical Genetics in the Faculty of Medicine and Honorary Consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust. The Wessex Genome Medicine Centre is offering a genome test to NHS patients with inherited rare diseases and cancer as part of the 100,000 genomes project. The genome centre is establishing testing in a clinical settings across Wessex and leading research to understand how genetic variation changes human development and predisposes to disease. Her major research interests are in the genetics, epigenetics and clinical characterization of childhood developmental disorders. She is the clinical research lead for the Wessex Imprinting group, a University NHS partnership which offers diagnostic testing and runs research programs for families with imprinting disorders throughout the UK. Imprinting disorders result from aberrant expression of a group of genes controlled by epigenetic mechanisms established in the developing germ cells. The conditions characteristically impact most in fetal and post natal growth, metabolism and appetite. She has pioneered research into the genetic causes of transient neonatal diabetes (TND), work that has changed the treatment for neonates with diabetes. She runs the Diabetes UK TND national register. She is recognized for her identification of new genetic imprinting syndromes including Temple syndrome, a condition with marked short stature and late onset obesity which has overlap with Prader Willi and Russell Silver syndrome. Professor Temple is an experienced clinical geneticist, having been a Consultant since 1990 and she plays a major-role in developing the Wessex Genetics Service. This serves a population of over 3 million people in Hampshire, Dorset and Wiltshire. She is past President of the Clinical Genetics Society. She is an international speaker on dysmorphology, one of the chairs of the national dysmorphology group, and has led on the development for UK Clinical Genetics services.

研究领域

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Professor Temple’s research builds on a long standing interest in the genetics and epigenetics of human developmental syndromes including children with developmental delay, poor growth and those born with congenital malformations. The present focus is on developmental disorders due to aberrant genomic imprinting. Professor Temple is the clinical research lead of the Wessex Imprinting group which was established in 2006 and has international links throughout the world. Genetic imprinting is a molecular mechanism controlling gene expression in a parent of origin specific manner. Prof Temple leads the UK wide Comprehensive Local Research Network adopted study called ‘Imprinting Disorders Finding Out Why?’ which has over 500 recruits from families with definite or possible imprinting disorders. The current work focuses on understanding the causes and clinical consequences of epigenetic mutations in imprinting disorders and discovering new imprinting conditions. The group have identified several novel genetic causes of epigenetic aberrations. Recent discoveries include the identification of ZFP57 in families with neonatal diabetes. They were the first to recognize imprinting overlap conditions with epigenetic mutations at multiple loci and epigenetic causes for Temple syndrome. The discoveries have a direct impact on families with the disorders, improving diagnosis and medical management. Research includes basic molecular and cellular biological approaches, bioinformatics and high throughput sequence analysis and clinical research into causes of epigenetic aberrations, treatments, complications, natural history and prognosis of imprinting disorders, particularly Transient Neonatal Diabetes, Silver Russell syndrome, Beckwith Wiedemann syndrome, Temple syndrome, Wang syndrome and unique overlap syndromes. Prof Temple also leads the Clinical Genetics Research forum (previously called the Academic Unit of Genetic Medicine (ACUGEMS)) which comprises clinicians and counsellors with an academic interest, and academics with a clinical genetics role. The group meet regularly to develop research in the clinical department and translate new discoveries for patients.