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.

Read the full press release to learn why the Bio-IT awards committee was so impressed with our new approach to calculating rare disease prevalence.