Overcoming challenges in the acquisition of biospecimens for rare diseases

Abstract

High-quality biospecimens are vital to furthering our understanding of human disease. Biospecimen collections for rare diseases pose unique challenges, and collaboration is often necessary for success. Several initiatives and tools have been developed to facilitate the collection of high-quality biospecimens and increase collaboration for biospecimen users. As science and technology advance, the research community must continue to develop tools and solutions to improve Biospecimen Science, advance research, and facilitate collaboration, while keeping pace with evolving scientific and ethical considerations.

Keywords::

• biorepositories
• biospecimen science
• confidentiality
• rare disease

Acknowledgements

The authors are grateful to Kelly Engel for contributing key references in Biospecimen Science.

Declaration of interest

The authors state no conflict of interest and have received no payment in preparation of this manuscript.