Google Play icon

Geneticists Launch Matchmaker Exchange for Rare Disease Gene Discovery

Share
Posted September 27, 2015

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.

TN_matchmaker

“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.

Source: BWH

Featured news from related categories:

Technology Org App
Google Play icon
85,440 science & technology articles

Most Popular Articles

  1. New treatment may reverse celiac disease (October 22, 2019)
  2. "Helical Engine" Proposed by NASA Engineer could Reach 99% the Speed of Light. But could it, really? (October 17, 2019)
  3. New Class of Painkillers Offers all the Benefits of Opioids, Minus the Side Effects and Addictiveness (October 16, 2019)
  4. The World's Energy Storage Powerhouse (November 1, 2019)
  5. Plastic waste may be headed for the microwave (October 18, 2019)

Follow us

Facebook   Twitter   Pinterest   Tumblr   RSS   Newsletter via Email