Genetics

Genetic studies play a crucial role in identifying the genetic determinants of disease risk and offer a vital pathway toward the design of effective treatments and the development of new cures. As part of the CVD FL, we will explore the use of cutting-edge sequencing technologies to deepen our understanding of cerebrovascular disease. To date, only a few genes have been identified that cause specific forms of cerebrovascular disease, such as NOTCH3 mutations, which result in CADASIL. However, the genetic background of a large proportion of patients with cerebrovascular disease remains unclear. We will leverage our ability to discover genetic variants, particularly repeats and structural variants, that might drive patients toward the development of cerebrovascular diseases. These variants will not only enhance our understanding of these diseases, but they could also represent much-needed biomarkers or targets for new treatment strategies and can inform into future studies. This will be achieved through the innovative use of long-read Whole Genome Sequencing, an approach that provides a comprehensive view of the human genome, enabling us to identify previously undetected mutations and uncover new genetic causes of cerebrovascular disease.

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