Guiding the Future of Hereditary Brain Aneurysm Research
At HBA Support, we believe progress starts with patients guiding research. Collaboration is critical. We’re working with patient groups, researchers and industry to pave the way to better partnerships, wider recognition, deeper understanding and tailored patient care for hereditary brain aneurysm patients.
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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 of hereditary brain aneurysms, guidelines, and genomics. Scroll to the bottom of this page to learn more about the Targeted Literature Review.
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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 priorities set out below:
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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.
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.
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, find the best ways to help patients, and create a dataset and further evidence for additional support.
Through these efforts, HBA Support is moving research forward and bringing hope and support to the hereditary brain aneurysm community.
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Our Research Journey
In the coming months and years, our focus is clear.
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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.
Understanding the 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.
Teaming up for research: We're looking to connect and work with researchers to connect patient needs to the research community. We can find common priorities that lead to important discoveries by working together.
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.
Supporting genetic counselling: By working with students 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.
What is a Targeted Literature Review (TLR)?
A targeted literature review is a survey or a focused assessment of a specific topic. It provides an overview of current knowledge, key evidence and data available, allowing those analysing it to identify relevant trends, theories, methods, and gaps in the existing research.
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Commissioned by HBA Support and carried out pro bono by Costello Medical, an expert healthcare consultancy, the new report compiles literature on rare diseases in one accessible resource.
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What areas did it look at?
The in-depth TLR looked at three key areas:
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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 valuable insight into the predicted number of individuals affected by the condition and support the finalisation and updating of screening recommendations.
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Genomics
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 mean there is no ‘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 genetic screening techniques to be developed.
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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.
Our 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.
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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.
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Find out more about the TLR below.
The Need for More Research & 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 that 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.
