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Stroke genetics


The goal of this proposal is to create a stroke biobank to identify genes that influence the risk fordeveloping stroke, also called susceptibility genes. Stroke is the third leading cause of death in thedeveloped world. It is even more disabling than letha l, and the persistent neurological impairment andphysical disability caused by stroke have a substantial socioeconomic cost. Stroke is a complexdisease resulting from the interplay of environmental and genetic factors. Major known risk factorsinclude famil y history, age, hypertension, hypercholesterolemia, diabetes, cardiovascular disease,smoking and alcohol consumption. Identification of genes increasing susceptibility to stroke wouldhave far-reaching public health impact, from enhancing motivation to make behavioral and lifestylechanges in susceptible individuals to providing basic biological and clinical information about thedevelopment, prevention and treatment of stroke.The genetic component has been demonstrated in twin and family studies, in animal mo del studies,and mutations have been found in several genes in rare classical Mendelian forms of stroke. However,very few susceptibility genes specific for the common forms of stroke have been identified andassociation studies have mostly reported conflicti ng results. We wilt use a novel genomic convergenceapproach that combines genomic screening, expression analysis, and association studies to identifysusceptibility genes.The first and key step in this endeavor is the creation of a high quality stroke bioba nk. During thetwo years of this grant we specifically propose to:1. Define the participating criteria (e.g. inclusion and exclusion criteria) and the information to becollected (e.g. clinical history and environmental exposures).2. Collect the biological s amples and information from 800 individuals originating from 200Portuguese multiplex families with ischemie stroke, CADASIL and cavernous#

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Avenida de Berna, 45-A

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