Research to uncover a hidden killer

Professor Hugh Watkins

With your support the Miles Frost Fund will help make genetic testing for family members of those diagnosed with the inherited heart condition hypertrophic cardiomyopathy (HCM) available nationwide. This is only possible thanks to BHF research.

In some cases HCM can go unnoticed in families until it causes the sudden death of an otherwise healthy young person.

Thanks to your donations, decades of BHF research has discovered many of the genes responsible so that genetic testing can be carried out for families at risk.

However there is still no cure for HCM and further research is needed to find more of the genetic faults that lead to the condition.

Early pioneers 

Professor John Goodwin was an early pioneer in improving our understanding of HCM and discovering that it was passed down through generations. Professor Goodwin’s research advanced methods to treat and care for people with HCM and one of his patient’s became the first in the world to be operated on for the condition in 1960.

In the early 1980s BHF Professor Michael Davies was one of the first scientists to carry out pioneering pathological studies in people who had died of HCM. His careful studies identified specific characteristics which predisposed these individuals to the fatal rhythm disturbance that HCM patients are prone to.

Working alongside Davies at St Georges Hospital London were BHF funded researchers Bill McKenna and Hugh Watkins, who started searching for the possible genetic causes of HCM. After a decade of painstaking research McKenna and Watkins were among the first to find faulty genes underlying the condition and have since discovered more.

Find the gene. Fight the disease. 

As a BHF Professor, Hugh Watkins used these findings to set up the first genetic testing service for HCM in the UK. This meant for the first time, parents, siblings and children of someone known to have a disease-causing mutation could find out if they also had it, and get help to prevent a crisis. 

The initial trial found nearly 700 people with faulty genes and the test was so cost-effective it was approved as an NHS service. 

Thanks to these pioneering discoveries, the Miles Frost Fund will help ensure more people at risk of HCM are referred for genetic testing and get the treatment that could save their life. 

In search of new treatments 

Despite this progress, there is no cure for HCM and we still need to discover more causative genes for the condition that will improve the accuracy of diagnosis and provide insights into possible new treatment. BHF researchers are at the forefront of making these breakthroughs.   

Dr Mike DoddProfessor Watkins and his team at the University of Oxford are testing different ways of treating HCM.  This work may reveal completely new types of treatment and they may be used to help prevent the disease developing in family members. 

Dr Mike Dodd was just 14-years-old when he was diagnosed with the HCM gene by Hugh Watkins. Dr Dodd now works in his laboratory and is helping to find new treatments for the disease.

At the University of Oxford, Dr Stefan Piechnik and his team are analysing heart scans of nearly 3,000 HCM patients. By developing new image analysis techniques, they may be able to identify certain key features of HCM - originally recognised by Professor Michael Davies - to identify patients at high risk of sudden cardiac death.

With your support, the Miles Frost Fund can help us end the heartache caused by hypertrophic cardiomyopathy.