โGenomenon’s Curation and Global Distribution of Variant Data Reduces Barriers to Genetic Diagnosis
ANN ARBOR, Mich., March 10, 2026 /PRNewswire/ —ย Genomenon today announced a strategic sponsorship from Amicus Therapeutics to accelerate awareness, diagnosis, and research for Fabry disease. Through this collaboration, Genomenon produced literature-derived real-world evidence by applying fit-for-purpose AI and expert review to curate and classify variants in the GLA gene. The resulting variant evidence has been made freely available to the global clinical and research community through the Mastermind Genomic Intelligence Platform and submitted to ClinVar, the widely used public archive of human genetic variants hosted by the National Center for Biotechnology Information (NCBI).
Fabry disease is a rare, X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A (ฮฑ-Gal A), encoded by GLA. This leads to progressive accumulation of globotriaosynceramide (GL-3) and damage to many areas of the body, including the heart, brain, kidneys, and skin. Early and accurate diagnosis of Fabry disease is critical to improved outcomes, but is complicated by its rarity, overlap with other conditions, and the need for genetic confirmation. Through this initiative, Genomenon submitted more than 1,300 GLA variants to ClinVar, including more than 1,000 variants assessed as pathogenic or likely pathogenic. Among those pathogenic/likely pathogenic variants, more than 50% were not previously present in ClinVar, expanding the publicly available knowledge base of this disease.
By broadening access to curated GLA variant evidence in both Mastermind and ClinVar, Genomenon and Amicus aim to support faster, more confident interpretation of genetic tests and reduce delays to diagnosis for patients and families affected by Fabry disease.
“This sponsorship with Genomenon expands access to highโquality genetic insights that can accelerate diagnosis and support more informed clinical decisions,” said Jeff Castelli, PhD, Chief Development Officer, Amicus Therapeutics, Inc. “By combining our Fabry expertise with Genomenon’s genomic intelligence, we hope to help more patients receive clarity earlier in their diagnostic journey, and ultimately, improve outcomes for individuals and families around the world.”
The collaboration is part of Genomenon’s Genetic Disease Sponsorship Program which partners with industry leaders to curate, classify, and distribute comprehensive variant evidence for rare genetic diseases. The program is designed to remove barriers to diagnosis by delivering publicly available, reference-cited variant knowledge to the global clinical and research community – submitted to both ClinVar and the Mastermind Platform to maximize visibility and impact.
“This sponsorship is about removing barriers to genetic diagnosis so fewer patients are left waiting for clarity,” said Mike Klein, CEO of Genomenon. “With rare diseases like Fabry, patients may remain undiagnosed for years. By removing barriers to variant knowledge and making expertly curated GLA variant evidence publicly available, we’re expanding access to critical data, helping resolve uncertainty around VUS, and enabling clinicians to identify patients who may otherwise never receive a diagnosis.”
About Genomenon
Genomenon is a real-world evidence and genomic intelligence company that partners with pharmaceutical organizations to accelerate drug development in rare disease and precision oncology. By transforming biomedical literature into structured, evidence-based real-world evidence, Genomenon strengthens disease understanding, informs clinical trial design, and supports regulatory and label expansion strategies. Genomenon empowers pharma teams with high-confidence, literature-derived insights that drive smarter, data-driven decisions across the drug development lifecycle.
Learn more atย www.genomenon.com or follow Genomenon on LinkedIn.
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SOURCE Genomenon
