Genotyping service
FH cascade audit project
In addition, our research outcomes are summarised in our final report.
(1.16MB)
Conference reports:
Reality not hype
Pharmacogenetics
Cancer Genetics 06
Cancer Genetics 07
Short summaries of selected publications from London IDEAS work:
Cardiovascular genetics:
"Cascade testing in familial hypercholesterolaemia: how should they be contacted?"
"Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002."
"Familial hypercholesterolaemia and coronary heart disease: a HuGE association review."
"Implementation of cascade testing for the detection of familial hypercholesterolaemia."
"Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy."
"Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy."
"Homocysteine is a risk factor for cerebral small vessel disease, acting via endothelial dysfunction."
Breast cancer:
"Development of a risk assessment tool for women with a family history of breast cancer."
"Family history of breast cancer and cost of life assurance: a test case comparison of current UK industry practice."
Other conditions:
"Identification of mutations in CUL7 in 3M syndrome."
"Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome."
"Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK"