NINDS Human Genetics Resource Center

National Institute of Neurological Disorders and Stroke


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. 


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 ( 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.


  • 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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  • Jan 2017

    Genome-wide Pathway-based Association Analysis Identifies Risk Pathways Associated with Parkinson's Disease

    This study, published in Neuroscience, identifies risk pathways associated with Parkinson’s disease, using Genome-wide pathway-based association analysis.

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  • Dec 2016

    Genome-wide Estimate of the Heritability of Multiple System Atrophy

    A study published in the journal of Parkinsonism and Related Disorders used Genome-Wide Complex Trait Analysis (GCTA) to estimate the heritable component of Multiple System Atrophy (MSA) due to common coding variability in imputed genotype data of 907 MSA cases and 3866 population-matched controls.

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