Monday 10th June 2013
Time: 1.00-2.00pm (tea/coffee available from 12.40pm)
Kennedy Lecture Theatre, UCL Institute of Child Health.
If you would like to suggest someone as a speaker, please contact the OWL Committee Chair, Professor Christine Kinnon.
For any administrative questions, please contact Nicole Hofmans.
Epigenetics- lessons from investigating human imprinting disorders
Part of the Otto Wolff Lecture series 2013
Professor Karen Temple
Professor of Medical Genetics, Human Development and Health, Faculty of Medicine, University of Southampton
Genomic imprinting is one of the best understood examples of epigenetic regulation of gene expression. Imprinted genes are characterised by expression from only one allele (of the pair) in a consistent parent of origin manner. Imprinted genes play a vital role in fetal growth and their carefully regulated expression is important for normal cellular metabolism.
This lecture will explore the clinical consequences of changes in epigenetic control at imprinted loci, which result in at least 8 distinct human clinical phenotypes. Research into the causes of Transient neonatal diabetes and Beckwith Wiedemann syndrome has provided insights into the enigma of non-genetic inheritance and discovered that it is quite genetic after all.
Professor Karen Temple is a clinical academic and Professor of Medical Genetics, at Southampton Medical School and Honorary Consultant in Clinical Genetics at University Hospital Southampton Trust. She is Deputy Director of the Academic Unit of Human Development and Health and past Director of the Human Genetics Division. Her major research interests are in the genetics, epigenetics and clinical characterization of childhood developmental disorders. She has pioneered research into the genetic causes of transient neonatal diabetes (TND), work that has changed the treatment for neonates with diabetes. She is recognized for her identification of new genetic imprinting syndromes including Temple syndrome, a condition with marked short stature and severe muscular hypotonia. Professor Temple is an experienced clinical geneticist and plays a major role in developing the Wessex Clinical Genetics Service. She is past President of the Clinical Genetics Society. Her first post in genetics was as a research fellow at the Institute of Child Health and she trained as Senior Registrar at the Hospital for Sick Children, Great Ormond Street. She was paediatric SHO to Professor Otto Wolff.