NINDS Human Genetics Resource Celebrates 20 Years!


Happy anniversary to the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center!

This collection, housed at the Coriell Institute for Medical Research since its creation, contains cell lines, DNA, and extensive de-identified clinical data from thousands of patients diagnosed with a wide range of neurological disorders, including some of the most pressing diseases of our time—stroke, parkinsonism, and several others.

Twenty years ago, NINDS prioritized the need for a central resource for nervous system disorder research. The NINDS Human Genetics Resource Center was created with the mission to provide biospecimens and accompanying clinical data to scientists investigating inherited risk factors for neurological disorders.

In the time since the collection’s creation, it has amassed tens of thousands of biological samples and data that is now a crucial resource for the study of these diseases and disorders. The samples in this collection were acquired via submissions by NINDS-funded researchers working on relevant projects.

Importantly, all submissions from these NINDS-backed researchers come with extensive clinical data. An impressive aspect of this collection is a strong foundation for this data collection. In laying that foundation, experts in the field—in the various diseases represented in the collection—designed which clinical elements would be important to researchers and established a standardized set of clinical details to be included when a sample is submitted. Over two decades, this approach has built an impressively thorough collection of clinical data, consistent within each disease collection in the resource.

“The NINDS Repository is an incredible resource for researchers investigating neurological disorders as well as those studying human health and disease more generally,” said Laura Scheinfeldt, PhD, the Principal Investigator of the collection at Coriell and Coriell’s Director of Repository Science. “The sheer number of biospecimens in the collection together with the associated clinical data makes this a very special and unique resource.”

Today, the samples in the NINDS Human Genetics Resource Center represent more than 42,000 individuals across seven disease categories: cerebrovascular disease (which includes stroke), dystonia (movement disorders characterized by sustained muscle contractions), epilepsy, motor neuron disease (which includes amyotrophic lateral sclerosis or ALS), parkinsonism, Tourette syndrome, and neurologically healthy controls. Over 100,000 biospecimens have been distributed to thousands of researchers for a wide variety of studies resulting in over 600 scientific publications, and the generation of several large-scale genetic and genomic datasets. These data may be re-shared with qualifying researchers through a controlled access database, the  database of Genotypes and Phenotypes (dbGaP), which is managed by the National Institutes of Health.

Now, 20 years later with a strong foundation carefully designed by NINDS, this collection continues to grow, adding high quality, relevant samples each week, making them and their clinical data freely available to scientists investigating causes, diagnoses and treatments of the many nervous system disorders.

The NINDS Human Genetics Resource Center has been funded with Federal funds from the NINDS, National Institutes of Health, Department of Health and Human Services under Contract Numbers N01-NS-2-2349, HHSN271200800033C, and 75N95019C00077.

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