Rare Genomics Institute Demonstrates the Power of Genomenon's AI-Based Technology in Diagnosis

Rare Genomics Institute Demonstrates the Power of Genomenon's AI-Based Technology in Diagnosis

LOS ANGELES, CA; February 28, 2019 -- Rare Genomics Institute, a nonprofit providing direct support to undiagnosed rare disease patients, announced on Rare Disease Day that they were able to diagnose a previously undiagnosed patient with the use of the Mastermind® Genomic Search Engine, a clinical decision support tool by Genomenon®.

The Patient Research Services of the Rare Genomics Institute has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients pro-bono access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end.

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Understanding What Makes a Successful Crowdfunding Campaign

The Scientist, May 2018 Issue | By Jim Daley | May 1, 2018 : Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

It was a parent who first approached Romina Ortiz, the COO and vice president of patient advocacy at the Rare Genomics Institute (RGI), about crowdfunding. The mother of Maya Nieder, a developmentally disabled 4-year-old, was looking for a way to raise money for her daughter’s whole-exome sequencing, which reveals the intricacies of protein-coding genes (see “Answers in the Exome” here).

Ortiz had cofounded the nonprofit in 2011 to connect physicians, researchers, and rare-disease patients to laboratories that could conduct diagnostic genome sequencing, and to help scientists in those labs find funding. It wasn’t easy at first.

“We by no means were experts at raising funds, so we really wanted to see how else we could help our [patients’] families,” says Ortiz.

In 2012, the RGI managed to raise $3,550 through crowdfunding to sequence Nieder’s exome. The genetic results revealed that the child had a mutation in a single gene that researchers thought was responsible for her disorder. The finding was the first example of a crowdfunded gene discovery.

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