PROVIDENCE, R.I., June 15, 2026
Nabsys 2.0, LLC has announced a strategic research collaboration with Leiden University Medical Center (LUMC) to advance the study of facioscapulohumeral muscular dystrophy (FSHD) using the company’s innovative OhmX™ Platform and proprietary electronic genome mapping (EGM) technology. The partnership aims to develop and validate a next-generation genomic assay capable of addressing long-standing challenges in diagnosing and analyzing FSHD, one of the most complex repeat contraction disorders. The announcement coincides with new data presented at the European Society of Human Genetics (ESHG) 2026 Annual Meeting, where Nabsys showcased advancements integrating CRISPR/Cas9 technology with electronic genome mapping to improve the detection and characterization of difficult genomic repeat regions. Together, the collaboration and scientific findings highlight the growing potential of EGM as a transformative tool for genomic research, rare disease diagnostics and structural variant analysis.
Novel Genome Mapping Technology Targets FSHD Diagnostic Challenges
FSHD is a hereditary neuromuscular disorder caused by abnormalities within the D4Z4 repeat region of chromosome 4, making accurate diagnosis technically demanding using conventional molecular methods. Current diagnostic approaches often require labor-intensive procedures such as Southern blot analysis and pulsed-field gel electrophoresis, both of which demand specialized expertise and complex interpretation. Through the collaboration, Nabsys and LUMC will develop a dedicated EGM-based assay capable of delivering precise D4Z4 repeat counting, haplotype discrimination and characterization of complex genomic rearrangements, including proximal deletions and recombination events.
LUMC is widely recognized as one of the world’s leading centers for FSHD research and diagnostics, providing extensive expertise, reference samples and scientific leadership that will accelerate assay validation efforts. Researchers believe the combination of Nabsys’ high-resolution electronic genome mapping platform and LUMC’s clinical expertise could provide a more accessible, scalable and reliable alternative to traditional diagnostic workflows for FSHD and related genetic disorders.
CRISPR Integration Expands Detection of Repeat Expansion Disorders
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At ESHG 2026, Nabsys also presented new research demonstrating how the integration of CRISPR/Cas9-based assay designs can further enhance the capabilities of electronic genome mapping. The study showed that targeted placement and blocking of genomic labeling sites significantly improved the resolution of repeat expansion regions that are often difficult to analyze using conventional sequencing technologies. Using the OhmX Platform alongside advanced bioinformatics tools, researchers successfully detected repeat expansions in the FMR1 gene associated with Fragile X syndrome and the FXN gene linked to Friedreich’s ataxia.
These disorders are among the most challenging genetic conditions to evaluate because traditional short-read sequencing methods frequently struggle to accurately measure large repetitive DNA regions. The results demonstrated that EGM can provide robust and highly accurate characterization of repeat expansions while supporting both whole-genome and targeted gene analysis workflows. The findings broaden the potential applications of EGM beyond FSHD and position the technology as a valuable tool for investigating a wide range of repeat-associated neurological and genetic disorders.
Expanding Opportunities in Genomic Research and Precision Medicine
The collaboration underscores Nabsys’ broader strategy of expanding global access to advanced genome analysis technologies while driving innovation in structural variation research. The company’s OhmX Platform, which combines nanofluidics, precision electronics and computational biology, is designed to deliver high-resolution genomic insights that are often difficult to obtain using conventional sequencing methods alone. As interest grows in precision medicine, rare disease diagnostics and cell and gene therapy research, technologies capable of accurately detecting structural variants and repeat expansions are becoming increasingly important. By partnering with a globally recognized institution such as LUMC and demonstrating successful integration with CRISPR-based workflows, Nabsys is positioning electronic genome mapping as a next-generation solution for genomic interrogation.
The latest advancements not only strengthen the scientific foundation for FSHD research but also open new opportunities for studying numerous genetic diseases where repeat expansions and structural genomic complexity remain major diagnostic challenges. As validation efforts continue, the collaboration could help establish new standards for genomic analysis and accelerate future discoveries in rare disease research and molecular genetics.
Source: Nabsys press release
