Skip to main navigation Skip to main content

Professor Karen Temple MB ChB (Hons), MD, FRCP

Professor of Medical Genetics, Honorary Consultant in Clinical Genetics,Co-lead of the Wessex Genome Medicine Centre

Related links

Dr Karen Temple is Professor of Medical Genetics at the University of Southampton and Honorary Consultant in Clinical Genetics at University Hospital Southampton NHS Foundation Trust.

She currently leads for Southampton in the Rare Diseases National Bioresource program and co-leads the Southampton Biomedical Research Unit Data Sciences cross cutting theme. She co-led the Wessex Genome Medicine Centre, introducing genomics to clinical practice as part of the national 100,000 genomes project and is past Director of the Academic Unit of Human Development and Health in the Faculty of Medicine.

Her major research interests are in genomics, epigenomics, using data science to enhance clinical practice and clinical characterization of childhood developmental disorders. She is the clinical research lead for the Wessex Imprinting group which offers diagnostic testing and runs research programs for families with imprinting disorders throughout the UK. 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 late onset obesity which has overlap with Prader Willi and Russell Silver syndrome. She co-runs the European Reference Network clinic in Southampton for patients with imprinting disorders.

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.

Qualifications

MB ChB (with Honours), University of Birmingham (1981)
FRCP, Royal College of Physicians (1995)
MD, University of Birmingham (2004)

Appointments held

Professor of Medical Genetics, Faculty of Medicine, University of Southampton.

Honorary Consultant in Clinical Genetics, University Hospitals Southampton NHS Foundation Trust.

Research

Responsibilities

Publications

Teaching

Contact

Research interests

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.

Department(s)

Human Development and Health

Affiliate Department(s)

Human Development and Physiology

Postgraduate student supervision

Current

Kemi Sodipe Research registrar

Faculty of Medicine

Director of Human Development and Health

National and International responsibilities

Member of the UK Genetics Testing Network steering group
Editorial Board member for the American Journal of Medical Genetics, Molecular Syndromology and Application of Clinical Genetics

Sort via:TypeorYear

Articles

Book Chapters

Temple, I., & Mackay, D. (2018). Diabetes mellitus, 6q24=related transient neonatal. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews [Internet] (GeneReviews). University of Washington.
Temple, I. K. (2007). Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. In R. Scharfmann, & J. P. H. Shield (Eds.), Development of the Pancreas and Neonatal Diabetes: 1st ESPE Advanced Seminar in Developmental Endocrinology, Paris, May 2007 (Vol. 12, pp. 113-123). (Endocrine Development). Karger. https://doi.org/10.1159/000109638
Turner, C. L. S., Temple, K., & Lucassen, A. (2005). Genetics. In A. Peebles, G. J. Connett, J. Maddison, & J. Gavin (Eds.), Cystic Fibrosis Care: a Practical Guide (pp. 25-36). Churchill Livingstone.

Letters/Editorials

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., Mackay, D., Temple, I. K., Visel, A., & Baynam, G. (2019). A diagnosis for all rare genetic diseases: the horizon and the next frontiers. Cell, 177(1), 32-37. https://doi.org/10.1016/j.cell.2019.02.040
The DDD study (2019). Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6). Nature Communications, 10(1), 1-4. [883]. https://doi.org/10.1038/s41467-019-08800-2

Report

Temple, I. K., & Westwood, G. (2006). Do Once and Share: clinical genetics. National Health Service.

Academic Unit lead for undergraduate education manpower

BM5 and BM4

Delivers lectures in years 1 and 3, is a small group tutor in years 3 and 5 and prepares examinations in Clinical Genetics.

Provides clinical teaching and examines for all years based at the University Hospital Southampton.

Personal tutor

Academic Clinical Fellowship training program in Clinical Genetics
Program organizer

Professor Karen Temple
Phone: +44 (0) 238120 3989 Fax: + 44 (0) 238120 4211 Email: ikt@soton.ac.uk

Room Number: SGH/IDS Level C

Share this profile Share this on Facebook Share this on Twitter Share this on Weibo

Privacy Settings