A brain aneurysm is a balloon-like bulge formed at a weakened point of an artery within the brain. While it often begins small and doesn’t trigger symptoms, it can enlarge, rupture, and cause internal bleeding, which is life-threatening. Considered a non-traumatic brain injury, aneurysms are particularly complex in children, as their brains are still developing. This condition can be associated with multiple factors but, in some families, an inherited gene may increase its likelihood. To better support patients, researchers at BC Children’s Hospital Research Institute (BCCHR) are working to advance the understanding of the genetic factors related to brain aneurysms.
Finding the genetic cause of brain aneurysms running in families will inevitably help us solve early onset vascular diseases in childhood.
– Dr. William Gibson
“Researching genetically-driven diseases affecting members of the same family helps us learn fundamental aspects of the underlying biology, which can be useful across all medical science,” says Dr. William Gibson, a BCCHR investigator. Dr. Gibson has been using next-generation sequencing (NGS) to identify the causes of genetically-driven diseases. NGS is a cutting-edge technology that enables rapid and cost-effective sequencing of entire human genomes, the set of DNA instructions found in a cell. “The study is key to solving many kinds of pediatric onset diseases, and this knowledge is widely applicable to other patients, even those who don’t have mutations in the gene that causes the disease.”
When brain aneurysms affect multiple first-degree relatives, they can be described as familial aneurysms. With an increased risk of developing this condition compared to the general population, members of these families are recommended for regular screenings. If an aneurysm is found at any time, the medical team will discuss treatment options. To investigate the genetics of brain aneurysms, scientists have focused on the detailed study of families with Mendelian inheritance, where traits caused by a single gene are passed from one generation to the next.
In these families, the inheritance pattern suggests that the major cause of susceptibility to brain aneurysms is a single genetic variant. “When we study families with multiple members affected by the same condition, we have the opportunity to locate the specific genetic mutation that is causing it,” says Dr. Gibson, who is also a professor in the Department of Medical Genetics at the University of British Columbia.
When brain aneurysms affect multiple first-degree relatives, they can be described as familial aneurysms.
Because unruptured aneurysms typically don’t cause symptoms, they’re often discovered when patients have a brain scan for unrelated conditions. The diagnosis is usually made through non-invasive imaging screening techniques, such as magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA).
A brain aneurysm is a common complex disease, a condition that typically results from a combination of factors: genes, lifestyle, and environmental triggers. According to Dr. Gibson, a common complex disease may be caused by a specific genetic mutation. If there was no mutation present, this condition might not have developed in younger patients and, perhaps, developed much later in life for unrelated reasons. “Finding the genetic cause of brain aneurysms running in families will inevitably help us solve early onset vascular diseases in childhood,” he says.
Studying a highly selected number of families with rare forms of the disease yields more information per patient that could help scientists uncover more data surrounding the genetic causes of brain aneurysms.
While brain aneurysms in children are less common than in the adult population, studying a highly selected number of families with rare forms of the disease — such as the pediatric or familial conditions — yields more information per patient that could help scientists uncover more data surrounding the genetic causes. “With this method, we learn more about the genes involved in the specific biology behind the formation and development of blood vessels and the pathways implicated in vascular malformations in children,” says Dr. Gibson.
Dr. Gibson is one of 18 recipients of the Brain Aneurysm Foundation’s (BAF) 2026 Research Grant Awards. BAF provides grants to researchers whose work aims to deepen the understanding of how brain aneurysms form and rupture, and advance new approaches to detection, risk assessment, and treatment. The US$50,000 in funding that Dr. Gibson is receiving will be invested in his current project, Long-Read Whole Genome Sequencing in Familial Intracranial Aneurysms.
This funding will support the DNA sequencing and bioinformatic analysis in the families involved in our study.
– Dr. William Gibson
“This funding will support the DNA sequencing and bioinformatic analysis in the families involved in our study,” says Dr. Gibson. That’s critical because larger national funding agencies typically only fund projects of this nature once a critical mass of preliminary data has been achieved. “The BAF grants will help us reach that goal.” Dr. Gibson expects that his research will not only lead to new diagnostic tests for families at high risk of developing brain aneurysms, but also solve the genetic cause of familial aneurysms.
