The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Girdea, Michael Gonzalez, Melissa A. Haendel, Ada Hamosh, Ingrid A. HolmLijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Christopher J. Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, Francois Schiettecatte, Nara L. Sobreira, Ganesh J. Swaminathan, Peter E. Taschner, Sharon F. Terry, Nicole L. Washington, Stephan Zuechner, Kym M. Boycott, Heidi L. Rehm*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.
Original languageEnglish
Pages (from-to)915-921
JournalHuman Mutation
Issue number10
Publication statusPublished - Oct 2015


  • matchmaking
  • rare disease
  • genomic API
  • gene discovery
  • Matchmaker Exchange

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