Genomenon announced a strategic sponsorship from Amicus Therapeutics on March 10, 2026, to accelerate awareness, diagnosis, and research for Fabry disease.1
Genomenon curated and classified over 1,300 GLA gene variants using AI and expert review, submitting them to ClinVar, with more than 1,000 assessed as pathogenic or likely pathogenic, over 50% new to ClinVar.1
The variant evidence is freely available via the Mastermind Genomic Intelligence Platform and ClinVar to support faster genetic test interpretation and reduce diagnosis delays.1
Fabry disease is a rare X-linked lysosomal storage disorder caused by GLA deficiency, leading to globotriaosylceramide accumulation and organ damage; early diagnosis is critical.1
This is part of Genomenon's Genetic Disease Sponsorship Program to remove barriers to diagnosis for rare diseases by distributing public variant knowledge.1
Quotes:
Amicus CDO Jeff Castelli emphasized accelerating diagnosis with high-quality genetic insights; Genomenon CEO Mike Klein highlighted reducing uncertainty around variants of uncertain significance (VUS).1
Sources:
1. https://www.prnewswire.com/news-releases/genomenon-and-amicus-therapeutics-partner-to-advance-fabry-disease-awareness-and-diagnosis-302708911.html