For details of the Cardiff International Cardiovascular Conference, 17 – 18 November 2015, visit our conference website We focus on education, research and development for inherited cardiac disorders including Sudden Cardiac death and Familial Hypercholesterolaemia.
Cells expressing the KCNQ1 gene product. Disease-causing mutations of the gene prevent the correct localisation and/or function of the encoded ion channel.
Many forms of cardiovascular disease have a genetic cause. We are addressing major opportunities for the prevention of inherited heart disease. Our goal is to improve the early diagnosis, prevention and treatment of inherited cardiac conditions and assist with family screening to avoid preventable deaths.
Our Team
- Professor Dhavendra Kumar, Work Package Lead
For details of the Cardiff International Cardiovascular Conference, 17 – 18 November 2015, visit our conference website
What we do
Sudden Cardiac Death
Long QT syndrome (LQTS) and Brugada syndrome are two genetic diseases that lead to abnormal heart beats known as arrhythmias. They have been identified as the conditions responsible for many of the unexpected sudden cardiac deaths in otherwise healthy, young adults.
We study the genetic mutations thought to be responsible for these life-threatening conditions. These mutations identified have been estimated at a prevalence of 1 in 5000 in the population.
Causative mutations are mainly found in genes encoding the sodium and potassium channels in the membranes of heart cells. We are working to identify and characterise the functional effects of variations in these genes.
We have developed an in vitro biophysical assay which shows the effects of each variant on the channels electrophysiological status and whether the channel proteins reach their normal location in the membrane.
This technology promises to better distinguish disease-causing gene changes from harmless variation and thereby assist with family screening to avoid preventable deaths.
Familial Hypercholesterolaemia (FH)
Familial hypercholesterolaemia, or FH, is an inherited condition that affects around 1 in 500 people.
People with FH have high blood cholesterol and substantially increased risk of early onset coronary heart disease if not detected, but normal life expectancy if identified and treated. The Wales Gene Park supported the development of a new All-Wales service for FH in which genetic testing allows the accurate identification of family members who carry an FH-causing gene and can benefit from early and effective drug treatment. The service is now funded by Welsh Government and has paved the way for development of similar services throughout the UK.
Contact us
For further information please contact the Package Leader Professor Dhavendra Kumar at KumarD1@Cardiff.ac.uk.
