Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments

ACS Pharmacol Transl Sci. 2019 Aug 22;2(6):491-496. doi: 10.1021/acsptsci.9b00034. eCollection 2019 Dec 13.


Because of the decreased cost and increased ease of whole genome analysis, the diagnosis of rare, orphan diseases has entered a new era. This new technological advance, combined with the worldwide web connections, now permits sharing, searching, and linking genotype, phenotype, and other information to facilitate diagnosis. Databases currently accessible and searchable by researchers, clinicians, and patients will be presented and discussed.

Publication types

  • Editorial