ANN ARBOR, MICHIGAN – October 16, 2018 - Genomenon announced today that they will donate Mastermind Genomic Search Engine licenses to the entire team of clinical scientists at Rare Genomics Institute to accelerate their work for patients with rare diseases.
Rare Genomics Institute (RG) is a nonprofit (EIN: 45-3624709) organization that has been at the forefront of providing direct support to undiagnosed rare disease patients and their families since 2011. RG helps patients find a diagnosis, treatment, and cure by connecting them to expert scientists and biomedical researchers who have access to the most advanced technologies to diagnose and accelerate research.
Genomenon’s Mastermind Genomic Search Engine powers evidence-based precision medicine by connecting patient DNA with the scientific research required to diagnose and treat cancer and rare diseases. Mastermind has the world’s largest index of medical articles cataloguing the genetic relationships between DNA and human diseases.
The Rare Genomics team will be able to use the professional edition of Mastermind to more quickly find evidence that can lead to a diagnosis for their patients, many of whom have previously gone undiagnosed by multiple specialists.
"For the last 8 years, we have helped hundreds of rare disease patients with genomic sequencing and analysis. We strive to use the best software applications to analyze and interpret patient-derived genomic data and subsequently helping the rare disease patients shorten their diagnostic odyssey. We are excited to use Genomenon’s latest Mastermind engine to mine genomic data to enhance our analysis workflow." SaidJimmy Lin, CEO of Rare Genomics.
“We are thrilled to support Rare Genomics Institute in their work.” said Mike Klein, CEO of Genomenon. “Their work to help patients with rare diseases is very compelling, and we are proud to contribute to their efforts with Mastermind.”
The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.
Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.
250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.
Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases.
