“Matchmaker Exchange” Launched to Aid Rare Genetic Disease Community; New Platform Harnesses Data from Multiple Databases to Simplify Searches for Causes of Rare Genetic Diseases

In the October 2015 issue of Human Mutation, a team of geneticists, including investigators at Brigham and Women's Hospital (BWH), has announced the launch of the Matchmaker Exchange - a platform that the rare genetic disease community can use to share information and find new connections. The Matchmaker Exchange platform 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, Ph.D., a molecular geneticist at BWH and Director of the Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine. "Matchmaker Exchange offers a reliable, scalable way to find matching cases and identify their genetic causes." The Human Mutation article is titled “The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery." 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 application programming interfaces (APIs) and procedural conventions. Using a federated network approach, MME protects the privacy and security of patient data while connecting the databases through APIs.
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