University of Cambridge
The Old Schools
Trinity Lane
Cambridge CB2 1TN
United Kingdom

 www.cam.ac.uk

Project Leader

Prof. Ieuan Hughes Phone: 0044-(0)1223-336885  Fax: 0044-(0)1223-336996  Contact

Project Staff

Dr. John Davies Research Associate  Phone: 0044-(0)1223-336948  Contact

Dr. Harriet Miles Clinical Lecturer  Phone: 0044-(0)1223-217495  Contact

Mr. Trevor Bunch Senior Research Technician  Phone: 0044-(0)1223-336948  Contact

Institute Presentation

The Department of Paediatrics, led by Professor Ieuan Hughes, is part of the School of Clinical Medicine within the University of Cambridge.  The University is about to celebrate 800 years of existence and now ranks within the top two world class Universities, having produced 55 Nobel Prize winners – the largest number of any single university.

Medical research in Cambridge is imbued with the ethos of translation; ensuring that the results of blue sky research and cutting edge science are applied ultimately to benefit health and wellbeing.  This has been the goal of a longstanding programme of DSD research in Cambridge, the focus being on disorders related to androgen signalling and how their elucidation can improve diagnosis and treatment modalities.  Underpinning the research programme is the Cambridge DSD Database which is the result of a unique collaboration amongst endocrinologists, geneticists, urologists, gynaecologists and psychologists who have readily shared resources for the common good of the patient.  Experience gained by knowledge of a vast array of conditions under the generic umbrella of DSD was the catalyst that led Professor Hughes and colleagues to organise a Consensus conference on DSD whose conclusions, particularly relating to nomenclature, are now universally adopted.  The Department in Cambridge has established sequencing facilities for key genes involved in androgen signalling such as SF1, SRY, 17HSD3, 5RD2 and AR.  There is now a validated clinical service for investigations related to analysis of the AR gene, which Professor Hughes and his research team established with colleagues at the Cambridge Molecular Genetics Service Laboratory, and is utilised widely on a national and international basis.  The Cambridge DSD centre provides a comprehensive patient service involving endocrinologists, paediatric urologists, paediatric gynaecology and clinical psychology and is supported by state of the art facilities in biochemical endocrinology, cytogenetics and molecular genetics.  An active programme of research involves studies of mechanisms of androgen action at the molecular level, epidemiology of urogenital birth defects and the impact of the environment and research projects focussing on how knowledge is acquired by families who have a child with a DSD.  These studies are supported by funding from the Medical Research Council, the European Union, the Birth Defects Foundation (Newlife) and the NIHR Cambridge Biomedical Research Centre.