NINDS Human Genetics Resource Center

National Institute of Neurological Disorders and Stroke

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The National Institute of Neurological Disorders and Stroke is committed to gene discovery, as a strategy for identifying the genetic causes and correlates of nervous system disorders. The NINDS Human Genetics Resource Center banks samples from subjects with cerebrovascular disease, dystonia, epilepsy, motor neuron disease, Parkinsonism and Tourette Syndrome, as well as population controls. 

Available samples 

Cerebrovascular Disease  DNA  LCL 
Dystonia  DNA  LCL 
Epilepsy  DNA  LCL 
Motor Neuron Disease DNA  LCL 
Parkinsonism  DNA  LCL 
Tourette Syndrome  DNA  LCL 
Controls  DNA  LCL 

Announcements

New Population Control Samples Available!

More than 800 African American population control DNA samples from the REasons for Geographic and Racial Differences in Stroke (REGARDS) project (http://www.regardsstudy.org/) have been added to the NINDS Human Genetics Resource Center and are available through the catalog to the scientific community. Since 2003, REGARDS, a NINDS funded project, has worked to better understand geographic and ethnic contributions to risk of stroke.

NINDS News

  • Apr 2018

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    This study, using a large-scale genome-wide association framework and exome sequencing, identified KIF5A as a novel gene associated with ALS.

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  • Mar 2018

    Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

    The identification of targets that effectively modulate vesicle trafficking in neurons, glia and myeloid cells could hold tremendous therapeutic value for C9ORF72 ALS and FTD and other CNS disorders.

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  • Aug 2017

    TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    This study, published in the journal Neuron, identifies a rare mutation found in ALS/FTD cases. These findings reinforce the importance of disturbed RNA metabolism in ALS/FTD and place altered membrane-less organelle dynamics at the center of ALS/FTD pathogenesis.

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Other News