Early-Onset Stroke Working Group

Chair / Co-Chairs: Patricia Musolino, Jukka Putaala, Frank-Erik de Leeuw, and Steven Kittner

Summary: Our mission is to decipher genetic determinants, both single gene and complex inheritance of early-onset stroke and cerebrovascular disease and search for the pathways through which they alter stroke susceptibility. We expect that this effort will lead to better treatments for Mendelian forms of stroke and will identify novel biological mechanisms that are also relevant to older-onset stroke.

Ongoing projects are:

(1) Early-Onset Ischemic Stroke Consortium GWAS and exome array project: The goal of this project is to assemble existing international genotype data on cases and controls to identify both common and rare stroke-associated loci and their causal variants, genes, and pathways. (Contact: Steven Kittner)

(2) Early-Onset Ischemic Stroke Consortium exome sequencing project: This is an academic-industry collaboration with Regeneron with a similar goal as above but entails new genotyping and sequencing of existing international samples of cases and controls.(Contact: Steven Kittner) 

(3) Young Genetic Stroke Alliance: The goal of this project is to create a network of researchers, clinicians, patients and patients advocates to conduct international patient-centered comparative research studies on newly identified cases. This would include natural history and biomarkers studies, genotype-phenotype correlations and the impact of disease on overall health and quality of life. (Contact: Patricia Musolino)

(4) Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome study (SECRETO): The goal of this study is to identify novel causal mechanisms, including genetic determinants, of early-onset ischemic stroke of undetermined etiology and identify the determinants of prognosis. (Contact: Jukka Putaala)

(5) Global Outcome Assessment Life-long after stroke in young adults initiative (GOAL): The aim of this study is to identify 1) the determinants, including genetic, of first and recurrent ischemic and hemorrhagic stroke and 2) the determinants of outcomes, including functional status, complications, and mortality. (Contact: Frank-Erik de Leeuw)