Case Study: Pharming improves APDS diagnosis with Genomenon

Pharming boosts APDS variant engagement 174% with Genomenon

Pharming, a company that developed the first FDA-approved therapy for APDS, faced significant challenges in diagnosing this ultra-rare genetic disorder due to its rarity and the high rate of inconclusive genetic test results. They needed a comprehensive, trusted, and freely available genetic variant resource but wanted to avoid the years-long investment and technical burden of building and maintaining it themselves. Pharming partnered with vendor Genomenon to address this using their Genetic Disease Sponsorship program and the Mastermind Genomic Intelligence Platform.

Genomenon implemented its AI-driven indexing and expert curation to rapidly develop a Variant Landscape for the genes associated with APDS. This resource was disseminated globally to over 25,000 users. The solution was delivered in just four weeks and is maintained by Genomenon, resulting in a massive increase in engagement with the genetic data—129% for one gene and 174% for another—which promotes earlier and more accurate diagnosis for patients.

Pharming