FOR IMMEDIATE RELEASE
Ann Arbor, MI – May 30, 2023
Genomenon Inc.®, a genomic intelligence company, today announced that it was awarded Best of Show at Bio-IT World Conference and Expo 2023 for its independent genetic disease assessment, which starts with calculating rare disease prevalence. Each year, the Best of Show Awards program at Bio-IT World recognizes innovative product solutions to important problems facing the Life Sciences industry. Genomenon’s offering was one of 33 new products considered for this prestigious award at last week’s 22nd annual event in Boston, MA.
Accurately estimating the prevalence of a rare disease is particularly challenging for orphan drug developers. Missing even one published paper that documents pathogenic and likely pathogenic gene variants implicated in rare genetic diseases can dramatically affect the resulting estimate. Underestimating disease prevalence can compromise fund-raising efforts for rare disease drug programs, whereas overestimating can make it difficult to meet clinical trial recruitment goals.
For companies targeting rare diseases, Genomenon’s disease prevalence report provides a more complete understanding of the genetic prevalence of autosomal recessive (AR) diseases. Part of Genomenon’s new Genomic Intelligence portfolio, this offering leverages both the Mastermind® Genomic Language Processing (GLP) AI technology and exhaustive knowledgebase of human genomic evidence with genomic intelligence.
Genomenon delivers an insight-rich curated dataset and comprehensive prevalence report that includes an updated calculation of estimated genetic prevalence that orphan drug companies can use to validate market potential for new therapies under development. In a recent application, Inozyme Pharma partnered with Genomenon to update the disease prevalence estimation for ENPP1 Deficiency. Genomenon’s revised estimate was more than three times the previous estimate, and results were published in the Orphanet Journal of Rare Diseases (Chunn et al, 2022, https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02577-2).
“We are honored that our new methodology for estimating and validating Rare Disease Prevalence was chosen by the awards committee as one of the most valuable and innovative solutions for the Bio-IT community,” said Genomenon CEO Mike Klein. “This recognition aptly demonstrates how we enable pharmaceutical companies that are pioneering development of therapies for orphan diseases with Genomic Intelligence.”
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.
The Bio-IT World Conference & Expo is the world’s premier event showcasing the technologies and analytic approaches that solve problems, accelerate science, and drive the future of precision medicine. For more than 20 years, the event has united a community of leading life sciences, pharmaceutical, clinical, healthcare, informatics, and technology experts in the fields of biomedical research, drug discovery & development, and healthcare from around the world.
Read more about this annual precision medicine event at https://www.bio-itworldexpo.com/
