Project description:The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (<a href="http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10">the NINDS Repository)</a>, banks phenotypic data and biological samples, including from individuals with cerebrovascular disease, in order to facilitate gene discovery in neurological disorders. Those samples are used in a number of studies, and genotyping data from studies using this resource are encouraged to be shared via dbGaP. Many studies have already shared data in this fashion, which in turn, can be linked back to the biologicals banked at the NINDS Repository. Stroke is the third leading cause of death in the United States, and is an acute neurological event leading to death of neural tissues. Although the majority of strokes are ischemic strokes, meaning there is oxygen deprivation to the brain, almost 20% of strokes are hemorrhagic, resulting from bleeding into the brain. Samples available in <a href="http://ccr.coriell.org/Sections/Collections/NINDS/Cerebrovascular.aspx?PgId=190&coll=ND">cerebrovascular disease</a> in the NINDS Repository, include but are not limited to those from individuals affected with the following: ischemic stroke, hemorrhagic stroke, intracranial aneurysm (both ruptured and unruptured), transient ischemic attack, arteriovenous malformations, and others. Many studies contribute to the NINDS Repository collection in an ongoing manner and others are being added regularly. These studies include samples from the Vitamin Intervention for Stroke Prevention (VISP) study, the Ischemic Stroke Genetics Study (ISGS), the Familial Intracranial Aneurysm study, and many others. There is also an associated Control collection (see <a href="./study.cgi?id=phs000004">dbGaP</a> and <a href="http://ccr.coriell.org/Sections/Collections/NINDS/Population.aspx?PgId=194&coll=ND"> Coriell</a>). Others studies may use cases from the NINDS repository, controls from the NINDS repository, as well as cases, and controls, from other sources. A subset of subjects from The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Cerebrovascular Disease/Stroke Study was utilized in the <a href="./study.cgi?id=phs000102">Ischemic Stroke Genetics Study (ISGS)</a> study.

Project description:The third leading cause of death in the United States, stroke is an acute neurological event leading to death of neural tissues. Although the majority of strokes are ischemic strokes, meaning there is oxygen deprivation to the brain, almost 20% of strokes are hemorrhagic, resulting from bleeding into the brain. Stroke is a complex disorder and likely multigenic in nature, resulting from a combination of genetic and environmental factors. These well characterized risk factors that contribute to the incidence of stroke include hypertension, cardiac disease, sickle cell disease, hyperhomocysteinemia, family history of stroke and smoking. ISGS aim is to perform a prospective genetic association study of ischemic stroke focusing on the hemostatic system. ISGS is a 5-center case-control study of first-ever ischemic stroke cases and concurrent controls individually matched for age, sex and recruitment site. This data includes that from subjects both banked in the <a href="http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10"> NINDS repository</a> with biologicals publicly available, and those whose samples are not banked/not available.  This study utilized the <a href="./study.cgi?id=phs000005">NINDS Repository Cerebrovascular/Stroke Study</a>, and <a href="./study.cgi?id=phs000004">neurologically normal controls</a> from the sample population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection for a first stage whole genome analysis.

Project description:The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (<a href="http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10">the NINDS Repository</a>), banks phenotypic data and biological samples, including from individuals with motor neuron disease, in order to facilitate gene discovery in neurological disorders. Those samples are used in a number of studies, and genotyping data from studies using this resource are encouraged to be shared via dbGaP. Many studies have already shared data in this fashion, which in turn, can be linked back to the biologicals banked at the NINDS Repository. Motor Neuron Disease is characterized by selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In Amyotrophic Lateral Sclerosis (ALS), there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes, the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy, the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation (Adams et al, Principles of Neurology, 6th ed, p 1089). The Motor Neuron Disease Collection of DNA and cell lines in the NINDS Repository is largely Amyotrophic Lateral Sclerosis cases (others include progressive muscular atrophy, primary lateral sclerosis, progressive bulbar palsy, Kennedy's disease). Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). Although ALS is the most common MND, it is still a relatively rare disease with an incidence of around 1.6 per 100,000 in the United States. It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered (including SOD1). However, most forms of the disease are not obviously familial. It is suspected that the sporadic forms of neurodegenerative disorders are caused by multiple genetic variants that individually make relatively weak contributions to risk. There is also an associated Control collection (see <a href="./study.cgi?study_id=phs000004.v1.p1">dbGaP</a> and <a href="http://ccr.coriell.org/Sections/Collections/NINDS/Population.aspx?PgId=194&coll=ND"> Coriell</a>). Studies in motor Neuron Disease may use cases from the NINDS repository, controls from the NINDS repository, as well as cases, and controls, from other sources. A subset of subjects from The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Motor Neuron/Amyotrophic Lateral Sclerosis (ALS) Study was utilized in the <a href="./study.cgi?id=phs000101">Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data</a> study. Note: The publication <a href="http://www.ncbi.nlm.nih.gov/pubmed/19193627" target="_blank">Chio et al., 2009</a> states that "Raw sample-level genotype data from the initial GWAS study ... are available for download through the dbGAP portal (<a href="./study.cgi?id=phs000006" target="_blank">phs000006.v1.p1</a>)". Instead, please follow this link: <a href="./study.cgi?study_id=phs000101.v1.p1">phs000101.v1.p1</a>.

Dataset Information

Homo sapiens

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets