Geneticists Launch Matchmaker Exchange for Rare Disease Gene Discovery

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In a special emanate of Human Mutation, a group including investigators during Brigham and Women’s Hospital has announced a launch of a Matchmaker Exchange – a proceed for a singular illness village 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 singular disease.

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“In a past, acid for a means of a singular genetic illness was like perplexing to find a needle in a haystack. There would be an occasional, serendipitous tie done by a clinical laboratory or particular questioner of dual patients who common a same singular disease, though there was no systematic proceed to find these relating cases,” pronounced Heidi Rehm, PhD, a molecular geneticist during BWH and executive of a Laboratory for Molecular Medicine during Partners HealthCare Personalized Medicine. “Matchmaker Exchange offers a reliable, scalable proceed to find relating cases and brand their genetic causes.”

Matchmaker Exchange (MME) 1.0 brings together mixed databases and programs and harnesses common information from opposite singular illness repositories. The height allows investigators to hunt a databases and expose identical symptoms and genetic profiles, regulating standardised focus programming interfaces (APIs) and procedural conventions. Using a federated network approach, MME protects a remoteness and confidence of studious information while joining a databases by APIs.

In a same emanate of Human Mutation announcing MME’s launch, researchers also benefaction box examples of discoveries already done regulating matchmaking approaches for uncovering singular illness genes and report a matchmaking services and components that are already partial of MME or are dictated to be connected to it in a future.

Source: BWH