The Challenge

In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing. Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.

The Solution

The 'Matchmaker Exchange' project was launched in October 2013 to address this challenge and find genetic causes for patients with rare disease. This involves a large and growing number of teams and projects working towards a federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.

Matchmaker Exchange Connected Nodes

Member Organizations

The following organizations are full members of the Matchmaker Exchange:

How to cite

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. 2015. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36: 915–921. doi:10.1002/humu.22858 [BibTex]

Participants

Representatives from the following organizations participate in Matchmaker Exchange: Does your organization participate? Email us at info@matchmakerexchange.org to be added to the list.

Funding

This project is funded by database participants and these organizations:

The Matchmaker Exchange is supported by CanSHARE, International Rare Diseases Research Consortium (IRDiRC), NIH Centers for Mendelian, Genomics, Genome Canada, CIHR, Care4Rare, RD-Connect (EU FP7 #305444).

Contact

For more information or to provide feedback on the website, please contact info@matchmakerexchange.org