Professor
Steve Humphries
BHF Chair of
Cardiovascular Genetics
University College London
Professor Humphries and his team aim to
identify genes that contribute to the development of heart disease
by analysing the DNA of large numbers of healthy people and people
with heart disease.
Environment and genes
Lifestyle and environmental factors have a major impact
on our risk of getting heart disease. Over several years, this
London team's work has focused on examining exactly how our
individual genetic codes seem to alter the harm or
benefit to our health we get from certain environmental factors,
especially smoking.
Professor Humphries and his team develop laboratory methods to
examine how variations in certain genes affect the proteins that
they encode. This work may be key to understanding heart
disease. It also opens up the possibility of using DNA information
to identify people with an inherited predisposition to develop
early heart disease. Such people could then be given lifestyle
advice and offered medical therapy to reduce their subsequent
risk.
Familial Hypercholesterolaemia
Professor Humphries has a particular interest in an inherited
disease called Familial Hypercholesterolaemia (FH) which causes
dangerously high levels of
cholesterol
in the blood from an early age. 120,000 people are estimated to
have FH in the UK, but only about 10 per cent or
less have been identified.
Early identification of FH means people can make changes to
their lifestyle, including their diet, and be given medication such
as statins to give them the best chance
of preventing heart disease and living a longer, healthier
life.
Professor Humphries' team has developed genetic screening
methods for FH. They have used these techniques to establish a
national DNA diagnostic service, which has already found many
people with FH patients by tracing the relatives of known FH
patients.