University College London
Institute of Child Health
30 Guilford Street
London WC1N 1EH
United Kingdom

 www.ich.ucl.ac.uk

Project Leader

Dr. John Achermann Phone: 0044-(0)207-905-2887  Fax: 0044-(0)207-404-6191  Contact

Institute Presentation

The Institute of Child Health, University College London is one of the largest paediatric research institutes outside North Amercia, and has close links with Great Ormond Street Hospital NHS Trust (Children’s Hospital) and University College London Hospitals (including Adolescent Medicine and Women’s Health). The monthly DSD clinic at Great Ormond Street involves a multidisciplinary team with both basic and clinical research interests in DSD and the adolescent/adult DSD clinic meets four times a year to review complex transition cases.

Dr John Achermann plays an active role in DSD services and has had a research interest in this area for more than 10 years. He currently holds a Wellcome Trust Senior Research Fellow in Clinical Science and Readership in Paediatric Endocrinology at UCL, and has published more than 50 peer reviewed papers, reviews or chapters on DSD and related subjects. His research currently focuses on the role of the nuclear receptor steroidogenic factor-1 in human disease and in regulating novel mechanisms in adrenal and reproductive development. The Institute of Child Health/University College London has a strong genomics facility led by Dr Mike Hubank and close links with bioinformatics.

Current members of the laboratory involved in adrenal and reproductive biology research are: Dr Lin Lin (Post-doctoral Research Assistant); Dr Rebecca Hudson-Davies (Post-doctoral Research Assistant); Dr Bruno Ferraz-de-Souza (CAPES PhD Studentship); Sara Tomaselli (Affiliate PhD Student).

The Institute of Child Health will contribute to Work Package 02 for the validation of the DSD GeneChip and for genomic analysis of cases of DSD using microarray technologies.