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What ACMG 2026 Revealed About Closing the Gap
If you work in rare disease, you know the frustration. The evidence you need to support a diagnosis, classify a variant, or advance a development program exists. But it’s scattered across thousands of publications, buried in supplemental data, and disconnected from the clinical workflows where it matters most.
The result? Delayed diagnoses. Inconsistent variant interpretation. Development programs bottlenecked by evidence that’s hard to find, hard to assess, and hard to trust.
We understand that frustration because we’ve spent years working alongside the researchers, clinicians, and pharma teams who live it every day. That’s why this problem - making biomedical evidence more complete, more usable, and more meaningful - was central to Genomenon’s presence at ACMG 2026.
What We Showed at ACMG
Solving the Diagnostic Puzzle in TK2 Deficiency
In partnership with the UCB team, we presented an Exhibit Theater session, “Thymidine Kinase 2 Deficiency (TK2d): Decoding the Diagnostic Puzzle,” featuring Sarah Chang, PhD, Medical Strategy Lead at UCB, and Genomenon founder and CSO, Mark Kiel, MD, PhD.
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TK2 deficiency is a rare mitochondrial disorder in which diagnosis is especially challenging. Evidence is often fragmented across the literature, making it difficult for clinicians to find and connect the right information at the right time. Our session showed how structuring real-world evidence from the full corpus of biomedical literature can help clinicians get patients to answers faster.
Expanding What We Know About BMP4 and Developmental Defects
Our poster presented by Betty Mathias, MS, demonstrated how deep variant curation in the BMP4 gene revealed a broader phenotypic spectrum than previously recognized - including developmental defects in patients without ocular anomalies.
Why does this matter? Clinicians and researchers need a more complete picture of how BMP4 variants present across patients. By bringing together and curating the published evidence, this work supports more accurate interpretation, broader recognition of clinically relevant features, and fewer missed or delayed diagnoses.
Tracking How Fabry Disease Evidence Evolves Over Time
Our second poster, presented by Jeffrey Bissonnette and sponsored by Amicus Therapeutics, analyzed how GLA variant classifications changed between 2023 and 2025 - and what those shifts reveal about pathogenicity assessment in Fabry disease.
This poster was recognized as a top-rated abstract at ACMG 2026, reflecting strong interest in longitudinal evidence analysis. Understanding not just where classifications stand today, but how they evolve, is critical for confident clinical decisions.
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Real Results: 10% More Fabry Diagnoses Annually
We also announced our sponsored collaboration with Amicus Therapeutics, focused on advancing awareness, diagnosis, and research for Fabry disease.
Through this work, Genomenon curated and classified more than 1,000 actionable variants in the GLA gene and made that evidence freely available through the Mastermind Genomic Intelligence Platform and ClinVar, with more than 50% of the variants not previously available.
The result: ~10%increase in the number of Fabry disease diagnoses each year.
That’s not a theoretical improvement. That’s patients who were previously falling through the cracks now getting identified and connected to care.
Read the full press release here.
Better Evidence Changes Outcomes
Across every presentation at ACMG, one message came through clearly: the field doesn’t need more data for its own sake. It needs evidence that is comprehensive, current, and clinically usable.
When evidence is structured and accessible, variant interpretation becomes more consistent. Disease understanding deepens. Development programs move faster. And most importantly, patients get an answer sooner.
That’s the change Genomenon is built for.
We are grateful to our collaborators at UCB and Amicus Therapeutics for helping bring this work to life at ACMG 2026.
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