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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RG Success Story: Harrison Snow Starts Treatment for Rare Muscular Disease

Since he was born, Harrison Snow had suffered from an undiagnosed muscular disease that led to difficulties speaking, swallowing, and breathing. He spent nearly every day in a state of fatigue and exhaustion. After four years of searching for a diagnosis, his family contacted the Rare Genomics Institute. 

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