Brain Aneurysm Foundation William Gibson, MD, PhD, FRCPC, FCCMG, FACMG, FRSM(UK)
Professor Gibson is a Clinician-Scientist and Medical Geneticist who has been at UBC for more than 20 years. He is perhaps best known for discovering the genetic/epigenetic causes of Weaver syndrome and the now eponymously-named Cohen-Gibson syndrome, as well as for publishing the first case series of SUZ12-related neurodevelopmental disorder (Imagawa-Matsumoto syndrome) and SETD1B-related neurodevelopmental disorder. All of these discoveries have been made with the critical help of UBC trainees and collaborators elsewhere. As genomic data becomes integrated directly into British Columbians’ health records, BC has an opportunity to lead with best practices for clinical interpretation at the individual level, and to do population-scale research in the contribution of rare genetic/epigenetic variants to common, complex diseases.
Before carving out his Faculty position at UBC in Vancouver, William trained at the Universities of Toronto, Western Ontario, Calgary and Cambridge, as well as at UBC itself. During his PhD studies at the University of Cambridge, he studied the genetics of rare obesity disorders, and since then has focused on solving rare genetic diseases, and also on understanding the contribution that rare, highly-penetrant genetic variants make to common, complex diseases like brain aneurysms.
What led you to become involved with brain aneurysm research?
The genetics of brain aneurysms have proven notoriously difficult to resolve, requiring the use of multiple different technologies over the previous decades. However, one technique that has proven successful across essentially all common complex diseases has been the detailed study of Mendelian families (often also called Multiplex families).
In these families, the inheritance pattern of brain aneurysms points to a single genetic variant as the major cause of aneurysm susceptibility. Having encountered several of these families in my clinical work, I have pursued high-resolution sequencing among as many affected family members as resources will allow. Solving the genetic cause of a Mendelian family produces useful knowledge of the underlying biology – and that knowledge is generalizable to other patients, even those who don’t have mutations in that gene or in that regulatory region.
In the simplest terms, what is the purpose of your project?
We seek to solve the genetic cause of brain aneurysms in families with dominant and recessive forms of the disease.
In the simplest terms, what do you hope will change through your research findings?
We hope and expect that our work will lead to new diagnostic tests for families at high-risk for brain aneurysms.
Why is the funding you are receiving through the Brain Aneurysm Foundation so important?
BAF funding is critical to support the DNA sequencing and bioinformatic analysis in our families. Larger national funding agencies such as the Heart and Stroke Foundation of Canada and the Canadian Institutes of Health Research typically only fund projects of this nature once a “critical mass” of preliminary data is achieved – the BAF funding will get us to that goal.