NIHR Oxford Biomedical Research Centre

Enabling translational research through partnership

MENUMENU
  • About
    • About the NIHR Oxford Biomedical Research Centre
    • Activities during COVID-19
    • Strategic Partnership Board
    • Steering Committee
    • Promoting Equality, Diversity and Inclusion in Research
    • Current Vacancies
    • Contact Us
    • Stay in Touch
  • Research

        • Research Overview
        • Clinical Research Facility
        • 15 Research Themes

        • Cancer
        • Cardiovascular Medicine
        • Digital Health from Hospital to Home
        • Gene and Cell Therapy
        • Genomic Medicine
        • Imaging
        • Inflammation across Tissues
        • Life-saving Vaccines
        • Metabolic Experimental Medicine
        • Modernising Medical Microbiology and Big Infection Diagnostics
        • Musculoskeletal
        • Preventive Neurology
        • Respiratory Medicine
        • Surgical Innovation, Technology and Evaluation
        • Translational Data Science
  • Patient & Public Involvement
    • Getting involved with research
    • View and register for involvement opportunities
    • Patient & Public Groups
    • Patient and Public Involvement Advisory Group
    • Diversity in Research Group
    • Oxford Blood Group
    • Case Studies
    • PPIE Strategy
    • PPIE News
    • PPI Researcher Guidance
    • Researchers: Post a PPIE opportunity
  • Training Hub
    • Training Hub Overview
    • Clinical Academic Pathway
    • Internships
    • Preparatory Research Fellowships
    • Senior Research Fellowships
    • Research Training Bursaries
    • Doctoral Awards
    • Post-Doctoral Awards
    • Other funding
    • Leadership Training
    • Useful Links
    • Training and Education Resources
    • Upcoming Training Events & Courses
  • Industry
    • Collaborate with Oxford BRC
    • Who Do We Work With?
    • Events
    • Further Information and Additional Resources
    • Contacts for Industry
  • Videos
  • News
  • Events

News

You are here: Home > Genomic Medicine > Genetic breakthrough to target care for deadly heart condition

Genetic breakthrough to target care for deadly heart condition

25 January 2021 · Listed under Cardiovascular Medicine, Genomic Medicine

University of Oxford researchers have discovered a new type of genetic change in the DNA of people with the inherited heart condition hypertrophic cardiomyopathy, the leading cause of sudden cardiac death in young people.

The findings, in a paper published in Nature Genetics, could transform the diagnosis and treatment of the disease, a silent killer amongst families that can cause sudden death in young people due to the thickening of the heart muscle.

This discovery, which may be the biggest advance in our knowledge of the genetic basis of the disease in 25 years, will help doctors better predict which family members need to be monitored for the condition and which can be ruled out from further tests or treatment.

The research was supported by the BHF and by the NIHR Oxford Biomedical Research Centre.

For over 25 years, scientists have known that HCM is caused by rare genetic faults in the machinery responsible for helping the heart muscle to contract and pump blood around the body. However, researchers and cardiologists have never been able to explain why the condition is so varied amongst family members who have the same rare mutation and why some people without these mutations still go on to develop HCM.

Now, Oxford BRC Theme Lead for Genomic Medicine, Professor Hugh Watkins (left), and his team at the Radcliffe Department of Medicine at the University of Oxford have discovered that the inheritance of a different type of genetic fault – called ‘common variants’ – not involved in the contractile machinery, form the missing piece to this long-awaited puzzle.

By comparing the DNA of 2,780 people with HCM and 47,486 people without HCM, the team found that the number of these common variants, in combination with the rare mutations, determine whether a person is protected or more susceptible to the disease. Another important consequence is that people who have HCM due to the common variants alone are unlikely to pass the disease on to their children.

HCM affects around one in 500 people in the UK, but most people who have it have few, if any, symptoms. If it’s left undetected and untreated it can cause sudden cardiac death, even in young people under 35 years of age

Professor Watkins said: “It’s now time we think differently about the way this hidden heart condition is detected and treated.

“We now have a new genetic tool that we believe will better predict which members of affected families will have a bad form of the disease, identifying those who need early intervention. It will also take away the worry for many families as it enables us to identify those who are unlikely to pass faulty genes onto their children. This will reduce the need for unnecessary genetic testing and regular follow-ups.”

Professor Sir Nilesh Samani, Medical Director of the BHF, said: “This research is a major step forward in our understanding of the genetics that underpin hypertrophic cardiomyopathy. It will revolutionise the way we screen people who have family members with this silent killer.

“HCM is one of the most common inherited cardiac conditions, affecting thousands of families across the UK. These discoveries will bring long-awaited answers to many families, and free many individuals from the need for regular clinical checks and the worry of whether they have also inherited the disease.”

The impact of this research is wide-ranging. It also revealed that lowering blood pressure in people with HCM due to these ‘common’ genetic faults could help to prevent the disease from developing.

This research was also supported by the Medical Research Council, Wellcome and the National Heart, Lung, and Blood Institute.

← Ancient gene mutation found to cause rare hereditary condition
Seven in ten patients hospitalised with COVID-19 not fully recovered five months after discharge →

Other news

News Categories

News by Month

See all news

Subscribe to the Oxford BRC Newsletter

Keep informed about the work of the Oxford BRC by subscribing to our Mailchimp e-newsletter. It is produced several times a year and delivers news and information about upcoming events straight to your inbox.

Subscribe Now

Oxford BRC on Social Media

  • Facebook
  • LinkedIn
  • Twitter
  • YouTube

Feedback

We’d love to hear your feedback. Please contact us at obrcenquiries@ouh.nhs.uk

  • Data Control and Privacy
  • Accessibility
  • Our Partners
  • Disclaimer
  • Contact

Copyright © 2023 NIHR Oxford Biomedical Research Centre