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.


  • 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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  • Jun 2019

    Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

    This multiethnic, population-based study on 20,949 participants sheds important new light on susceptibility factors of brain infarcts, a marker of covert vascular brain injury commonly observed in older persons.

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  • Dec 2018

    Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, longread PCR assay

    This study, using a novel bimodal PCR assay capable of amplifying nearly 100% of GC-rich sequences, provides comprehensive genotyping of the C9orf72 repeat region for over 2000 ALS samples collected in the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center.

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