Biospecimens are an essential resource for studying the pathogenesis of diseases and for other biomedical research. However, there are many challenges standing in the way of locating and acquiring a sufficient amount of high quality specimens of diseases for research. For rare diseases these challenges are magnified many times over.
Rare disease specimens, to the extent that they are available, are widely dispersed across geographical regions and among various government or privately supported biorepositories.
- Many of the rare disease specimens are collected and stored together with specimens of common diseases with no appropriate designation. As a result, the existence of rare specimens may not be known to investigators.
- Many advocacy groups lack the funds to support biorepositories.
To address some of these issues, the Office of Rare Diseases Research has developed the Rare Diseases Human Biospecimens/Biorepositories database (RD-HuB) to serve as a central portal where researchers, professional societies, patient advocacy groups and other interested parties can locate and identify biorepositories and specimens needed for their research with a focus on rare diseases.
The RD-HuB website contains a searchable database of human biospecimens collected, stored, and distributed by biorepositories in the United States and around the world for research use. Searchable fields include: (1) Repository name, (2) Disease, (3) Specimen Type, (4) Anatomic Source, (5) Processing Method, (6) Storage Method, and (7) Imaging. In addition, it contains a directory of various biorepositories available to the scientific community. The specimen’s data and the biorepository directory will be updated and expanded periodically to include additional information from existing biorespositories.
Specimens of rare diseases listed in this database are labeled and linked to the Genetic and Rare Diseases (GARD) Information Center, which provides extensive medical and educational information about the specific disease.
Managers of biorepositories associated with patient registries are encouraged to link the patient data to the biospecimens data set in the process of de-identifying the data using the Global Unique Identifiers (GUID) system or an internal generated ID.