🧵 A few facts from our recent research review showing why more awareness and research are needed for familial brain aneurysm syndrome...
#RareDiseaseDay #Genomics #Research
#RareDiseaseDay #Genomics #Research
1) No one is collecting prevalence data in the UK. Globally, research suggests the prevalence of unruptured brain aneurysms in people with a family history has been recorded as 2.3%-29.4%. This is higher than in the general population, reported to be around 0.02%-8.8%. 
2) Researchers looking into familial brain aneurysms have found more than 30 genes linked to increasing the susceptibility to brain aneurysm development in families. No single gene or multiple genes have been confirmed, but a breakthrough will come with more research.
3) A lack of prevalence data means international guidelines for clinicians who have patients suspected of having familial brain aneurysm syndrome are mixed.
These three areas add up to a lack of awareness, poor patient pathways and barriers to accessing screening, diagnosis and treatment.
HBA Support wants to work with researchers, clinicians, genetic counsellors and others to change this. Get involved at hbasupport.org/31/get-involve…
HBA Support wants to work with researchers, clinicians, genetic counsellors and others to change this. Get involved at hbasupport.org/31/get-involve…
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