PRESS RELEASE: World-first UK genetics study, ROAR-DNA, could transform NHS care for brain aneurysms
- HBA Support
- Aug 27
- 7 min read
PRESS RELEASE
Unlocking the genetics of brain aneurysms: world-leading new UK study aims to transform NHS approach to a potentially inherited silent killer
A world-leading, landmark research initiative aims to lay the foundation for the country’s first genetic screening programme for brain aneurysms—potentially reshaping how the NHS identifies and manages a life-threatening but often overlooked condition that can devastate families for generations.
The ROAR-DNA Project, a UK-based multicentre research project bringing together researchers from University Hospital Southampton NHS Foundation Trust (UHS) and the University of Southampton, is the first study of its kind and scale to investigate the genetic markers that may predispose people to develop brain aneurysms. Brain aneurysms are balloon-like swellings in blood vessels of the brain, found in approximately 3% of the UK population, that’s over 2 million people. While most aneurysms remain stable and harmless, around 1 in 100 will rupture, usually without warning, causing a subarachnoid haemorrhage (SAH)—a type of stroke that can be fatal or severely disabling. In the UK, an estimated 3,000 to 5,000 people experience a brain aneurysm rupture each year, with around half of these cases proving fatal.
Most aneurysms are sporadic, meaning they are one-off events, but there is evidence of a strong genetic component to the development of intracranial (brain) aneurysms. They often run in families with over 16% of patients with an aneurysm having an affected parent or sibling. Despite this significant data, no genetic screening programme currently exists, and little is known about the genes that impact aneurysm growth and rupture. The UK four-year ROAR-DNA Project aims to close that gap by collecting and analysing genetic data from 6,000 patients with brain aneurysms, comparing this against data from patients without brain aneurysms, working in tandem with the existing ROAR Study, which is already tracking over 20,000 patients across the NHS—the largest study of its kind globally.
Professor Diederik Bulters, Consultant Neurosurgeon at UHS, Honorary Professor of Neurovascular Surgery at the University of Southampton and Chief Investigator of the ROAR Study, said: "Brain aneurysms typically produce no symptoms but can burst without warning with catastrophic consequences. The reality is most brain aneurysms will never rupture but we currently have no way of identifying the minority that will. We are making great strides in understanding clinical risk factors but our ability to understand the genetics behind their development and understand why they rupture remains surprisingly limited for a condition that potentially impacts 3% of the UK population.
"ROAR-DNA is designed to fill the critical gap in our understanding of genetic risk—offering a more complete picture of who is most vulnerable to aneurysms. This pioneering research is only possible within the NHS, thanks to its unique infrastructure, trusted access to secure patient data, and the generous support of the Medical Research Council. It could pave the way for targeted NHS screening programmes that identify and monitor high-risk individuals before an aneurysm becomes life-threatening—and open up new possibilities for therapeutic treatment to reduce the need for invasive surgery."
Rebecca Middleton, CEO of HBA Support, the UK charity that supports patients and families affected by brain aneurysms, and the Patient Lead on the project, added: “This research is urgently needed. My family has been devastated by this condition, and I was treated seven years ago for a growing brain aneurysm. I’m just one of thousands left wondering whether my family history puts other close relatives at risk.
“Until now, we’ve had no definitive answers. ROAR-DNA could transform that—by uncovering which genes matter, we will be one step closer to potentially screening through a blood test, enabling earlier intervention and care, new medicines and drugs and personalised pathways for those patients and families at an increased risk. Ultimately, this ground-breaking and world-leading study could save lives and heartache. For patients, this is not just about science—it’s about hope, reassurance, and the possibility of preventing future tragedies."
The ROAR-DNA Project is a pivotal step in the broader ROAR Study research programme, which stands for Risk Of Aneurysm Rupture, working to improve risk prediction models currently used by NHS neurovascular teams. The ROAR Study is the largest study in the world focused on the management of patients with unruptured intracranial aneurysms. Current existing tools, like the PHASES score which is used to predict rupture risk, are based on a limited set of factors and do not account for important risks such as sex and family history. The Roar Study announced in April this year that is has reached a key milestone of achieving the recruitment target of over 20,000 patients. The enhanced models emerging from the ROAR studies aim to provide patients and clinicians with clearer, evidence-based pathways for care. Results are due to be published later this year and are eagerly awaited by both the patient and the medical neuro specialist community.
Participant recruitment for ROAR-DNA is set to begin in Autumn 2025, with patients across the UK invited to learn more at https://roarstudy.co.uk/roar-study.
ENDS
Notes to Editors
About Brain Aneurysms
Unruptured brain aneurysms (bulges or swellings of the blood vessels in the brain) are surprisingly common, affecting around 3% of the population (about 2 million people). Most aneurysms cause no problems, however a small number, between 3000 and 5000 aneurysms rupture each year, with half of these cases proving fatal.
About ROAR-DNA Study:
ROAR-DNA is a landmark genetic study of intracranial aneurysms using whole-genome sequencing (WGS) to identify who to screen, who to treat, and which biological pathways to target for further research. While most intracranial aneurysms are sporadic, they often run in families with 16.4% of patients having an affected parent or sibling.
Currently, in the UK screening is limited to individuals with two affected first-degree relatives. However, even with highly penetrant mutations, we estimate <10% of individuals with a genetic risk factor are eligible for screening. There's no genetic test to guide screening, which involves costly, lifelong MRI scans. Previous studies have lacked power and only examined common variants. ROAR-DNA will be the first large-scale study to assess both rare and common genetic risk, enabling personalised screening based on a comprehensive genetic risk model.
About the ROAR Study:
Aneurysms can be treated before they rupture however, these treatments carry risks, with complication rates between 5% and 8%. It is crucial to be able to identify which aneurysms are at high risk of rupturing, so treatment is given only when it’s likely to do more good than harm.
The Risk of Aneurysm Rupture (ROAR) Study is the largest research project of its kind in the world and aims to transform how we assess the risk of brain aneurysms rupturing.
The ROAR study has collected detailed information on about 20,000 patients with unruptured brain aneurysms, and is using national databases of hospital admissions and deaths to detect which aneurysms burst. Already, ROAR includes more than 100,000 years of patient follow-up which 15 times more than any previous study and this will continue to grow over the years as patients are followed-up indefinitely.
The goal of this study is to develop better, more reliable prediction models to guide treatment decisions. This will help ensure that patients get the right care at the right time, potentially saving lives and avoiding unnecessary procedures.
About HBA Support:
HBA Support is the UK’s only charity dedicated solely to supporting people affected by brain aneurysms. Through advocacy, peer support, and close collaboration with the NHS and research partners, the organisation works to raise awareness, improve care pathways, and champion advances in diagnosis, treatment, and prevention.
About University Hospital Southampton NHS Foundation Trust (UHS)
1) University Hospital Southampton NHS Foundation Trust (UHS) is one of the largest acute teaching trusts in England with a turnover of more than £1.3 billion in 2023/24. UHS provides hospital services for 1.9 million people living in southern Hampshire and specialist services – including neurosciences, respiratory medicine, cancer, cardiovascular, obstetrics and specialist children’s services – to more than 3.7 million people in central southern England and the Channel Islands. Southampton General Hospital is a designated major trauma centre serving the Wessex Region and Channel Islands and is one of only two places in the south of England to offer adults and children full onsite major trauma care provision.
2) Every year more than 12,000 staff see 750,000 people at outpatient appointments, deal with 150,000 attendances at the emergency department and treat 155,000 admitted emergency, in-patient or day-case patients. In addition, the trust delivers more than 100 outpatient clinics across the south of England to keep services local for patients. Providing these services costs £2.7 million per day.
3) Following the Care Quality Commission’s most recent inspection (report published in April 2019), all sites and services across UHS are now rated as ‘good’ or ‘outstanding’ in the effective and caring domains. Overall, the trust received a ‘good’ rating – and ‘outstanding’ for providing effective services. Among individual services, the CQC rated urgent and emergency services, medical care, surgery, services for children and young people and end of life care ‘good‘, with critical care ‘outstanding’. To view the full report, visit www.cqc.org.uk/provider/RHM/reports.
4) UHS is consistently one of the UK's highest recruiting trusts of patients to clinical trials and in the top ten nationally for research study volume as ranked by the National Institute for Health and Care Research (NIHR). In partnership with the University of Southampton, UHS has £27 million of NIHR infrastructure dedicated to bringing the latest treatments to patients. For more information, visit www.uhs.nhs.uk/research.
6) Southampton Hospitals Charity enhances the care and treatment of our patients by raising funds to support areas that lie beyond the scope of NHS funding. For more information, visit www.southamptonhospitalscharity.org
About the University of Southampton
The University of Southampton drives original thinking, turns knowledge into action and impact, and creates solutions to the world’s challenges. We are among the top 100 institutions globally (QS World University Rankings 2025). Our academics are leaders in their fields, forging links with high-profile international businesses and organisations, and inspiring a 22,000-strong community of exceptional students, from over 135 countries worldwide. Through our high-quality education, the University helps students on a journey of discovery to realise their potential and join our global network of over 200,000 alumni.
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