Rare Genomics Institute says it has successfully diagnosed a previously-undiagnosed patient using Genomenon’s Mastermind Genomic Search Engine. [Genomenon]
Rare Genomics Institute says it has successfully diagnosed a previously-undiagnosed patient using Genomenon’s Mastermind Genomic Search Engine. [Genomenon]

Rare Genomics Institute said today it successfully diagnosed a previously undiagnosed patient using Genomenon’s Mastermind Genomic Search Engine.

The announcement, timed to coincide with Rare Disease Day 2019, comes four months after the partners launched a collaboration in which Genomenon agreed to donate licenses allowing clinical scientists working with Rare Genomics Institute to access Mastermind.

Mastermind is designed to link data on DNA mutations from patients with citations from scientific publications, with the goal of understanding the clinical impact of each mutation. Mastermind aims to comprehensively identify and prioritize all clinically relevant articles, and to date has indexed 6 million full-text scientific articles with information on 6.5 million variants, as well as 29 million titles and abstracts.

Rare Genomics Institute is a Downey, CA-based nonprofit established in 2011 to provide direct support to undiagnosed rare disease patients and their families. The Institute seeks to help investigators diagnose rare diseases and accelerate research by connecting patients to researchers.

In a recent case, Rare Genomics said in a statement, a patient had their whole exome sequenced and analyzed by a leading genetics laboratory that was unable to find any clinically relevant genetic mutations capable of offering a diagnosis.

A computational geneticist on the Institute’s Patient Research Services team reanalyzed the patient's DNA. Using Mastermind, Lipika Ray, PhD, found a single research report containing data that matched the DNA of her patient. The report described a patient who shared similar symptoms with the patient being analyzed by Ray.

Based on Ray’s re-analysis, Rare Genomics recommended that the patient be re-examined based on what Mastermind uncovered.

“I can say with certainty that without the findings obtained from Genomenon, I would not have been able to provide a diagnosis for this patient,” Ray said in a statement. “Sometimes there is only one research paper that can connect a patient’s DNA with a diagnosis. Searching through millions of research papers to find a patient’s genetic mutation can be like trying to find a needle in a haystack. With advanced AI techniques used by Genomenon, the needle can pop right into view.”

Getting a diagnosis for a rare disease can take an average of five years and hundreds of doctor visits, according to the Institute, which cited a 2015 study reviewing past studies on the socioeconomic cost of 10 rare diseases.

Patient Research Services connects with technology partners and genetic experts from research institutions, with the goal of giving patients pro bono access to genomic sequencing, data analysis, and interpretation services.

In many instances, Rare Genomics said, it works with partners and volunteer experts to reopen searches for the genomic variants of patients by re-analyzing cases that have hit a dead end.

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