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Nabsys Targets Muscular Dystrophy with Electronic Genome Mapping

Nabsys Targets Muscular Dystrophy with Electronic Genome Mapping

Facioscapulohumeral muscular dystrophy remains a significant diagnostic hurdle, often eluding standard short-read sequencing. Nabsys is now partnering with the Leiden University Medical Center to deploy its OhmX electronic genome mapping platform, aiming to replace labor-intensive, radioactive methods with a more scalable and precise genomic analysis tool.

The collaboration focuses on developing an assay to resolve D4Z4 repeat units, complex rearrangements, and proximal deletions that characterize FSHD. By leveraging the Leiden University Medical Center’s domain expertise and well-characterized samples, the companies intend to create a workflow that bypasses the limitations of Southern blot and pulsed-field gel electrophoresis. These traditional techniques currently require high levels of technical skill and radioactive materials, creating a bottleneck for diagnostic laboratories worldwide.

At the European Society of Human Genetics 2026 Annual Meeting, Nabsys demonstrated that its OhmX platform, when integrated with CRISPR/Cas9, can effectively target and resolve repeat expansions. This technical milestone extends beyond muscular dystrophy; the company reported success in identifying repeat expansions associated with Fragile X syndrome and Friedreich’s ataxia. By using bioinformatics pipelines such as the Human Chromosome Explorer and RepX, the team confirmed the platform's ability to provide high-resolution data in both gene-specific and whole-genome modes. According to Barrett Bready, CEO of Nabsys, this integration of precision electronics and nanofluidics is designed to provide a more accessible, high-throughput alternative for clinical researchers dealing with complex structural variants.

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