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People

Prof. Steve Humphries

Director

Professor Steve Humphries

PI

Professor Philippa Talmud

Contact Us

Centre for Cardiovascular Genetics
BHF Laboratories, UCL
The Rayne Building
5 University Street
London WC1E 6JJ

Centre PA: Kate Henderson
Tel 0207 679 6969

Cardiovascular genetics

Cardiovascular Genetics - A typical family tree representing a family (circles /females, squares/males) with a dominant form of heart disease (Familial Hypercholesterolaemia), showing that affected members (filled circles or squares) only have to receive a defective gene from one parent.

Overview

Risk of heart disease often runs in families, suggesting a genetic influence. These may be single gene defects or many genes which together increase risk of heart disease. To identify precisely the genes involved, a consortium has been established at UCL which enables us to study more than 25,000 healthy individuals followed over many years for the development of heart disease. In the future this may lead to the development of genetic tests that will help identify those at risk of early heart disease so they can be offered lifestyle and therapeutic measures to reduce their risk.

Key research activities

Using Genetics to Understand Multi-factorial Heart Disease and Identify People at Risk

Conventional heart disease risk factors, such as cholesterol levels, blood pressure etc. only explains part of an individual’s risk, but we can add genetic information to these factors and improve risk prediction.

More than 40 genes have been identified that influence an individual’s risk and we are measuring them in large groups of healthy people and people with heart disease to work out how they cause disease, and the best combination to use to identify those at risk.

Understanding the Functional Basis of these Genetic Effects

Identifying the exact change in the gene that can explain these associations is our ultimate goal. This may help develop new drugs used to treat people at high risk. New methodologies and the novel use of Bioinformatics are being developed in our Centre to achieve this.

Familial Hypercholesteroleamia (FH) - Single Gene Defect Causing Early Heart Disease

In the UK an estimated 120,000 individuals have FH, caused by a single gene defect, resulting in high blood cholesterol and increased early heart disease. FH patients respond well to cholesterol-lowering by statins making early identification important and life-saving. We have shown that it is cost-effective to use a genetic test in these families to identify new FH cases. We are using state of the art “Deep-Sequencing” technology to identify the genetic basis of FH in those patients where no mutation can currently be found.