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Nabsys Targets Repeat Expansion Disorders via Electronic Genome Mapping

Facioscapulohumeral muscular dystrophy has long defied standard short-read sequencing, but a new partnership aims to break that deadlock. Nabsys is joining forces with the Leiden University Medical Center to apply electronic genome mapping to complex repeat contraction disorders, seeking to replace labor-intensive diagnostic methods with a scalable, digitized alternative.

Bio & NewsJune 15, 20262,176 reads0

The collaboration centers on the OhmX Platform, a technology that integrates precision electronics and nanofluidics to map genome structures. By utilizing CRISPR/Cas9 to optimize labeling sites, the researchers intend to resolve the D4Z4 repeat units characteristic of FSHD—a task that currently forces labs to rely on outdated, radioactive techniques like Southern blotting. Prof. Silvère van der Maarel of the Leiden University Medical Center noted that these traditional methods are significant bottlenecks in modern research. His team expects the OhmX system to provide the structural variant resolution necessary to handle complex rearrangements and proximal deletions that standard sequencing tools fail to detect.

Beyond muscular dystrophy, Nabsys presented new data at the 2026 European Society of Human Genetics meeting confirming the platform's utility in identifying repeat expansions linked to Fragile X syndrome and Friedreich's ataxia. By combining the OhmX hardware with Hitachi High-Tech’s bioinformatics pipelines, the company demonstrated the ability to call FMR1 and FXN repeats with high accuracy. According to Nabsys CEO Barrett Bready, this integration of CRISPR technology expands the reach of electronic genome mapping, positioning it as a robust, high-resolution alternative for researchers investigating challenging genomic regions.

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