WG purpose and aims
The mission of the Early-Onset Stroke WG is to elucidate the genetic determinants of early-onset stroke and cerebrovascular disease, by coordinating large collaborative efforts, including GWAS and sequencing studies. We study both monogenic and complex forms of inheritance and seek to identify the biological pathways through which they influence stroke susceptibility. Ultimately, this will help us understand potential differences between early- and late-onset stroke and identify mechanisms that are especially important for early-onset stroke.
What does the WG do?
The WG brings together researchers with a focused interest in early-onset stroke to foster collaboration and data sharing. We compile and maintain information on early-onset stroke cohorts and related studies within the ISGC. The group meets through regular working group meetings and during ISGC workshops. During these meetings, updates on joint projects are discussed, as well as opportunities for new projects and grant applications.
Past successes/output
The most recent and key outputs from the WG include:
Genome-wide association studies:
- Jaworek T et al. Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke. Neurology. 2022 Oct 17;99(16):e1738-e1754. doi: 10.1212/WNL.0000000000201006.
The summary statistics of the latest GWAS can be accessed through: Cerebrovascular Disease Knowledge Portal (https://cd.hugeamp.org/)
Sequencing:
- Ilinca A et al. Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke. Stroke. 2020 Apr;51(4):1056-1063.
Other:
- Nguyen KTK et al. Impact of Conventional Stroke Risk Factors on Early- and Late-Onset Ischemic Stroke: A Mendelian Randomization Study. Stroke. 2025 Mar;56(3):640-648. doi: 10.1161/STROKEAHA.124.048015.
- Ilinca A et al. Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke. Eur J Hum Genet. 2023 Feb;31(2):239-242.
WG leads
- Assoc. Prof. Liisa Tomppo, MD, PhD, neurologist, Helsinki University Hospital, Helsinki, Finland
- Assoc. Prof. Andreea Ilinca, MD, PhD, neurologist, Lund University, Lund, Sweden
- Dr. Quentin Le Grand, PhD, Postdoctoral Researcher, Inserm UMR1078 “Genetics, functional Genomics and Biotechnology” (GGB), Brest, France
Contact
Researchers interested in early‑onset stroke genetics are welcome to join. Contact us via this link to become involved.