One gene, all the difference

Investing in new facilities to provide the best treatment for future generations of heart and lung patients

Right now, geneticists and scientists from the Clinical Genetics and Genomics Laboratory at Royal Brompton Hospital are carrying out tests for people who are suspected of having inherited cardiac and respiratory conditions. But we need to expand our service to reach more people.

What kinds of condition can genetic testing help to diagnose?

There are many types of genetic condition that can be identified through genetic testing. One that lots of people have heard of is Cystic Fibrosis, which results in the lungs and digestive system becoming clogged with thick, sticky mucus causing problems with breathing and digestion.

A lesser known genetic condition is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ARVC is a disease that affects the heart muscle, making it thin and stretched, which results in insufficient blood being pumped around the body. The consequences can be fatal for anyone with a deficit in this gene, and even the fittest people can be affected. Former Bolton Wanderers footballer Fabrice Muamba has the condition. In 2012, Fabrice suddenly collapsed during a televised FA Cup game, and was ‘in effect dead’ for 78 minutes. Amazingly, Fabrice survived but he was forced to retire from football at the age of 24.

It is estimated that over 64,000 people in the UK have a fault in this gene; roughly one in 1000. However, as is the case with many other inherited cardiac and respiratory conditions, with early diagnosis through genetic testing, the disease can be successfully treated and managed.

Genetic testing already saves thousands of lives, but the number could be higher if testing was more readily available to diagnose potentially fatal inherited heart and lung conditions.

Why do we need your help?

We want to expand our genetics testing service to do just that. But this costs a lot of money and requires highly trained staff. We therefore need your financial support to invest in technology, software and maintenance.

The many benefits of genetic testing include:

  • Providing an earlier and more accurate diagnosis.Unique ID: yyor00120 Caption: Scientist/Technician putting lids on sample tubes in rack. A hospital pathology laboratory. Restrictions: NHS Photo Library - for use in NHS, local authority Social Care services and Department of Health material only Copyright: ©Crown Copyright
  • Determining prognosis and confirming how the disease will develop.
  • Dictating therapy and treatment, as well as providing faster treatment.
  • Supporting family planning.
  • Saving many more lives.

Please help us to expand our service.