Nabsys, LUMC Advance FSHD Research
Analysis based on 6 articles · First reported Jun 15, 2026 · Last updated Jun 15, 2026
This medical breakthrough by Nabsys, in collaboration with Leiden University Medical Center, is expected to positively impact the biotechnology and healthcare sectors by offering a more accurate and cost-effective diagnostic tool for genetic disorders. The advancements in electronic genome mapping could lead to improved research and treatment options, potentially increasing investment and innovation in the genomics field.
Nabsys, a pioneer in electronic genome mapping (EGM) technology, announced a collaboration with Leiden University Medical Center (LUMC) to utilize Nabsys' OhmX Platform and an EGM-based assay in facioscapulohumeral muscular dystrophy (FSHD) research. This partnership aims to accelerate the evaluation and validation of the assay, which is designed to provide D4Z4 repeat counting and resolution, haplotype discrimination, and related recombination events, addressing limitations of current diagnostic methods. Additionally, Nabsys presented data at the European Society of Human Genetics (ESHG) 2026 Annual Meeting, demonstrating the OhmX Platform's integration with CRISPR to improve detection and resolution of challenging repeat expansions, including those related to Fragile X syndrome and Friedreich's ataxia. This technology offers a more practical and scalable solution for genomic analysis.
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