The Cerebrovascular Disease Genomics Lab focuses on understanding the genetic and molecular basis of intracranial aneurysms (IA) and aneurysmal subarachnoid hemorrhage (ASAH), a devastating type of stroke with high mortality and long-term disability. Despite their clinical impact, we currently lack tools to accurately predict who is at risk and when intervention is needed. Our mission is to change that through the power of human genetics. We use genome-wide association studies (GWAS), rare variant analyses, and polygenic risk scores to identify genetic factors that contribute to aneurysm formation and rupture and translate findings to the clinic. Our team has played a leading role in the largest international genetic studies of IA to date, involving over 40,000 patients and more than 3 million controls. Building on these data, we aim to uncover druggable pathways and translate findings into clinically actionable tools.

Our research follows two complementary lines:

1. Drug target discovery – We identify genetic variants and prioritize candidate genes to uncover new therapeutic opportunities. Using functional annotation and transcriptomic data, we aim to find targets that can prevent aneurysm rupture.

2. Risk prediction – We develop polygenic scores and combine them with clinical and imaging data to improve rupture risk assessment and patient stratification. We also explore sex-specific effects, cell-type specificity, and gene-environment interactions to refine risk models.