By Diagnostics World Staff
September 24, 2015 | Brigham and Women’s Hospital announced this morning the launch of the Matchmaker Exchange, a way for the rare disease community to share information and find new connections. Matchmaker Exchange connects databases of genetic information and symptoms that physicians and investigators can “match” with a patient’s rare disease.
“In the past, searching for the cause of a rare genetic disease was like trying to find a needle in a haystack. There would be an occasional, serendipitous connection made by a clinical laboratory or individual investigator of two patients who shared the same rare disease, but there was no systematic way to find these matching cases,” said Heidi Rehm, a molecular geneticist at BWH and director of the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine in a statement. “Matchmaker Exchange offers a reliable, scalable way to find matching cases and identify their genetic causes.”
Matchmaker Exchange (MME) 1.0 brings together multiple databases and programs and harnesses collective data from across rare disease repositories. The platform allows investigators to search the databases and uncover similar symptoms and genetic profiles, using standardized APIs and procedural conventions. Using a federated network approach, MME protects the privacy and security of patient data while connecting the databases through APIs.
Matchmaker Exchange is supported by the International Rare Diseases Research Consortium, the Global Alliance for Genomics and Health and the participating MME sites. For more information go to www.irdirc.org, genomicsandhealth.org, or www.matchmakerexchange.org/.