Clinical Genetics
Overview
The SE Scotland Genetic Service is headed by Dr Mary Porteous and consists of 3 sections, 2 of which, Clinical and Molecular are housed in the MMC. The third, Cytogenetics is located elsewhere on the WGH site. There are currently 5 consultant clinical geneticists, three of whom are also Senior Clinical Scientists in the MRC Human Genetics Unit. The service participates in several national studies including:
- Epidemiological study of BRCA1 and BRCA2 mutation Carriers; Lead institution Royal Marsden Hospital, funding CR-UK
- UK Familial Ovarian Cancer Screening Study (UKFOCCS); Lead Institution Barts Hospital, funding CR-UK, NHS R and D
- A UK Huntington’s Disease Registry: collaboration with Euro HD; Lead institution Cardiff University, funding Dunhill Medical Trust, High Q Foundation
- The Genetics of Familial Breast Cancer Study; Lead Institution Cancer Research Institute, Sutton, funding CR-UK
- Data Register to assess the implications of clinical testing, surveillance and prophylactic surgery on families undergoing testing for mutations in gastric cancer susceptibility genes; Lead Institution Cambridge University, funding CR-UK
- Tuberous Sclerosis 2000 study: PI Professor John Yates, University of Cambridge, Department of Medical Genetics, National study
- Detection of submicroscopic chromosomal deletions and duplications inpatients with dysmorphism and learnign difficulties by micorarray genomic hybridization. PI Dr Charles Shaw-Smith, University of Cambridge, Department of Medical Genetics, National study
- Dr Porteous was a founding member of ScotGEN, the Scottish Genetic Education Network and members of the medical and counselling team are actively involved in a wide range of Genetic Educational initiatives
Further Information
