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. 

Available samples 


New Cerebrovascular Disease Samples Available!

More than 1000 African American 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.


  • Apr 2020

    Defining research priorities in dystonia

    The NIH brought together leaders in dystonia research for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.

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  • Feb 2020

    Integrating Biological Knowledge Into Case–Control Analysis Through Iterated Conditional Modes/Medians Algorithm

    A new empirical Bayes model for logistic regression is presented in this article. NINDS Repository Parkinson's data submitted to dbGaP were used to highlight the advantages of the new method.

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  • Jan 2020

    Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

    This study, using exome sequencing, identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis (ALS). Researchers also found SPTLC1 mutations in 0.34% of 5,607 ALS cases, and immunohistochemically confirmed the expression of SPTLC1 in spinal cord motor neurons, supporting its role in the pathogenesis of this fatal neurological disease.

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