Right now, clinical geneticists at Royal Brompton Hospital are carrying out tests for patients and their families who they think could have an inherited heart or lung condition. The work they do gives people the knowledge they need to decide how to go about their lives. The work they do saves lives.

Will you help us to expand the service to save many more?

Lots of genetic conditions can be identified through testing. One that many 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 thins and stretches the heart muscle, 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. In 2012, Former footballer Fabrice Muamba suddenly collapsed during a televised FA Cup game, and was ‘in effect dead’ for 78 minutes. Amazingly, Fabrice survived.

It is estimated that over 64,000 people in the UK have a fault in this gene; roughly one in 1,000. 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.

Why we need your help

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. 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 bed side view

Dr Jan Till, Paediatric Electrophysicist, sees first hand the benefits of being able to test patients for life-threatening genetic disease. 

We help many people with inherited diseases. One young man who springs to mind was diagnosed here as a child with a genetic disease. He had a terrible time and nearly died before he got to us because the condition was not well recognised and is life threatening. He grew up and was married and has recently had his first child. We screened immediately for the gene and we found the baby had the same condition as his father. We started the baby on treatment immediately so he will never have to go through the same experience as his dad.  

The many benefits of genetic testing include:

• Providing an earlier and more accurate diagnosis.
• 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.

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We need your help to make it happen. Thank you.