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. 

Announcements

Come see us at ASHG!

The 67th Annual Meeting of the American Society of Human Genetics will be held at the Orange County Convention Center South Building in Orlando, Florida, from Tuesday, October 17 through Saturday, October 21, 2017.

The ASHG Annual Meeting is the largest human genetics meeting and exposition in the world. This year’s meeting is expected to attract over 6,500 scientific attendees, plus over 200 exhibiting companies.

The meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.

Find more information and register at http://www.ashg.org/2017meeting/.

NINDS News

  • 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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Other News