News Release

Geneticists launch Matchmaker Exchange for rare disease gene discovery

New platform to help patients, researchers and physicians seeking answers about rare, genetic diseases

Peer-Reviewed Publication

Brigham and Women's Hospital

In a special issue of Human Mutation, a team including investigators at Brigham and Women's Hospital has announced 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, PhD, 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."

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.

In the same issue of Human Mutation announcing MME's launch, researchers also present case examples of discoveries already made using matchmaking approaches for uncovering rare disease genes and describe the matchmaking services and components that are already part of MME or are intended to be connected to it in the future.

Rehm and her colleagues will also be presenting the new platform at the American Society of Human Genetics Annual Meeting on October 7 at 7 p.m. For more details, please visit


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, or

Paper cited: Phillippakis, A et al. "The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery." Human Mutation. September 17, 2015. DOI: 10.1002/humu.22667.

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare. BWH has more than 4.2 million annual patient visits, nearly 46,000 inpatient stays and employs nearly 16,000 people. The Brigham's medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in patient care, quality improvement and patient safety initiatives, and its dedication to research, innovation, community engagement and educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Brigham Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, more than 1,000 physician-investigators and renowned biomedical scientists and faculty supported by nearly $600 million in funding. For the last 25 years, BWH ranked second in research funding from the National Institutes of Health (NIH) among independent hospitals. BWH continually pushes the boundaries of medicine, including building on its legacy in transplantation by performing a partial face transplant in 2009 and the nation's first full face transplant in 2011. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative as well as the TIMI Study Group, one of the premier cardiovascular clinical trials groups. For more information, resources and to follow us on social media, please visit BWH's online newsroom.

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