Predicting Pathogenicity in Fabry Disease: Longitudinal Analysis of GLA Variant Reclassification and Trajectories (2023–2025)

This poster was developed as part of a strategic sponsorship from Amicus Therapeutics to accelerate awareness, diagnosis, and research for Fabry disease.  The resulting variant evidence has been made freely available to the global clinical and research community through the Mastermind solution and submitted to ClinVar.

You can read more about the sponsorship in the press release here.

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.

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Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

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The Most Comprehensive Source of Curated Genomic Evidence + Scientific Experts

We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.

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