Guiding the Future of Hereditary Brain Aneurysm Research

At HBA Support, we're leading the way in studying hereditary brain aneurysms. Our mission is to connect people affected by brain aneurysms with groundbreaking discoveries. Our mission is to offer hope to those facing brain aneurysms and the researchers striving to understand this condition better.

Our Research in Context

HBA Support's journey is anchored in a comprehensive Targeted Literature Review (TLR) conducted in 2022. This review delved into the prevalence, guidelines, and genomics of hereditary brain aneurysms. Scroll to the bottom of this page to find out more about the Targeted Literature Review.

Bolstered by insights from key stakeholders and patients, HBA Support's approach is primed for impactful progress. 

Focus of Our Research

We're now focusing on three main areas and are looking for funding and interested researchers to help us progress our prorities set out below:

  1. Finding out how common this condition is: We want to learn how common familial aneurysm syndrome is and how this compares with sporadic cases. By studying different groups, we can understand more about this condition and its natural history in familial cohorts.
  2. Closing gaps in treatment and screening: We're looking at how patients are treated and screened. We want to make sure each patient gets the best care and that guidelines are clear.
  3. Making better classifications: We're working to understand how clinical and genetic experts label and identify familial aneurysm syndrome in families. This helps us better understand the condition and find the best ways to help patients and create a dataset and further evidence for additional support.

Through these efforts, HBA Support is not only moving research forward but also bringing hope and support to the hereditary brain aneurysm community.

Our Research Journey

In the coming months and years, our focus is clear:

  1. Building trust and insight: As we become a reliable source of information, HBA Support wants to create partnerships, boost research efforts, and attract funding to speed up important findings.
  2. Understanding clinical and psychological impact: We're looking into how common hereditary brain aneurysms are and the impact they have. This helps us identify gaps in how patients are cared for and treated.
  3. Teaming up for research: We're looking to connect and work with researchers to connect patient needs to the research community. By working together, we can find common priorities that lead to important discoveries.
  4. Creating a shared database: In time, we hope to create a database with information from people affected by familial aneurysm syndrome. This helps connect patients and researchers.
  5. Supporting genetic counselling: By working with student and qualified genetic counsellors, we can learn more about patients' experiences and raise awareness of the condition. We’re already supporting MSc Genetic Counselling students with their studies and research.

Targeted Literature Review

Targeted Literature Review

Until now, trying to understand genetic markers for intracranial aneurysms and the genetic causes of hereditary brain aneurysms took hours of research and was simply inaccessible to many patients. People affected by hereditary brain aneurysms often found themselves trying to piece together information from multiple sources, which was difficult to understand and navigate. What’s more, people’s experience of living with familial risk has played a limited role in research and has been often hard to find.

This is why Hereditary Brain Aneurysm (HBA) Support has commissioned an extensive Targeted Literature Review (TLR), looking at hundreds of reports and sources to create an accessible and reliable single source of information on this brain disease.

Find out more about the TLR below.

Familial Intracranial Aneurysm Research TLR

What is a Targeted Literature Review (TLR)?

A targeted literature review is a survey or a focused assessment on a specific topic. It provides an overview of current knowledge, key evidence and data available allowing those who are analysing it to identify relevant trends, theories, methods, and gaps in the existing research.

Commissioned by HBA Support and carried out on a pro bono basis by Costello Medical, an expert healthcare consultancy, the new report compiles literature on the rare disease in one, accessible, resource.

What areas did it look at?

The in-depth TLR looked at three key areas:

Prevalence and Incidence

Studies have shown that people with a family history of brain aneurysms are more likely to have an aneurysm themselves. However, no studies have reported the prevalence and incidence of familial intracranial aneurysms (hereditary brain aneurysms) within the general population. This would give a valuable insight into the predicted number of total individuals affected by the condition and support the finalisation and updating of screening recommendations.


Multiple genetic candidates have been associated with hereditary brain aneurysms. However, the discrepancies between some studies and the limited understanding of how genetic variants lead to brain aneurysm development means there is not a ‘confirmed’ list of genetic candidates that cause hereditary brain aneurysms. Further research into this area may help consolidate the list of genetic candidates and allow for genetic screening techniques to be developed.

National and International Guidelines

There are few national and international guidelines available covering the management and treatment of hereditary brain aneurysms. This indicates that the current clinical approach may be variable. Where guidance is specific to hereditary brain aneurysms, it is mostly focused on the screening of high-risk individuals. Tailored treatment guidelines would be valuable in the UK and globally.

The need for more research and collaboration

We know that more research, together with collaboration between clinicians and those affected by hereditary brain aneurysms, will improve the support available to those affected and their families. Eventually, with increased knowledge, better genetic testing and targeted screening within high-risk families could be offered, saving lives and minimising the stress and worry which a diagnosis can cause. Eventually, we hope that a simple blood test could be an effective way of screening people.

This TLR is the first step in changing the landscape for support and information for families with this rare, hereditary condition. We hope the overview proves useful for the patient, research and clinical communities. Through this knowledge and collaboration, we hope to open doors for better dialogue, more research and greater support for the families impacted by this potentially devastating condition. 

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HBA Support, CIC
Community Interest Company (CIC) Company number: 13428276.

HBA Support is a voluntary and non-medical organisation. We take no responsibility for an individual’s health. For any concerns or worries, please always speak to your GP or a clinical professional.