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Rare Diseases Human Biospecimens/Biorepositories (RD-HuB)

A young boy with plastic bronchitis.With recent advances in technology driving unprecedented progress in understanding what causes diseases and a stronger-than-ever focus on precision medicine, biospecimens have become an increasingly crucial resource for biomedical research. For example, biospecimens such as human tissue and bodily fluids (e.g., blood, saliva, urine) can be used to:

  • Identify genes linked to specific diseases;
  • Develop measureable indicators to show the presence, absence, or stage of a disease or biological process;
  • Diagnose conditions in the clinic;
  • Test potential new drugs for safety and effectiveness; and
  • Develop therapeutics, including through pharmacogenomics studies, that focus on how genes affect a person’s response to drugs.

For researchers studying rare diseases, access to high-quality samples can be challenging, because these conditions affect small numbers of patients, who typically are scattered across large geographical areas. NCATS encourages patient registry owners to collect and store high-quality samples linked to patient clinical data, using best practices and with institutional review board (IRB) approval.

In January 2016, NCATS compiled the following central listing of RD-HuB; more resources will be added as they become available.

Last updated: 08-07-2017
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