Nabsys Announces Advancements in Detection of Repeat Contraction and Expansion Disorders Via Electronic Genome Mapping in Collaboration with Leading European Institutions
- Collaboration with Leiden University Medical Center (LUMC) will explore application of electronic genome mapping (EGM) in facioscapulohumeral muscular dystrophy (FSHD)
- Poster presentation today at the European Society of Human Genetics (ESHG) 2026 Annual Meeting demonstrates ability of OhmX™ Platform to detect repeat expansion assays via EGM, optimized with CRISPR/Cas9
PROVIDENCE, R.I., June 15, 2026 /PRNewswire/ -- Nabsys 2.0, LLC (Nabsys), a pioneer in electronic genome mapping (EGM) technology, today announced a collaboration with Leiden University Medical Center (LUMC), a leading academic research institution in Europe, to utilize Nabsys' OhmX Platform and an EGM-based assay in facioscapulohumeral muscular dystrophy (FSHD) research, a repeat contraction disease that has historically been challenging to research using traditional molecular techniques. The Company also presented data in a poster presentation today at the European Society of Human Genetics (ESHG) 2026 Annual Meeting demonstrating the OhmX Platform's integration with CRISPR/Cas9 to improve detection and resolution of challenging repeat expansions through targeted placement or blocking of labeling sites.
LUMC is one of the most authoritative and influential centers globally for FSHD research and diagnostics and plays a defining role in shaping international diagnostic guidelines and clinical best practices. Under this collaboration, Nabsys is developing a specific EGM-based assay to be run using the OhmX Platform for the genomic analysis of FSHD. LUMC and Nabsys will work to accelerate the evaluation and validation of the assay leveraging well-characterized reference samples and LUMC's world-leading domain expertise. The aim of the assay is to provide D4Z4 repeat counting and resolution, haplotype discrimination, and related recombination events that include complex rearrangements, proximal deletions, and other edge cases, with the ultimate goal of addressing the limitations of current diagnostic methods. In other applications, EGM has proven to be a more reliable, simpler, and lower risk alternative to other tools.
"LUMC is a world leader in FSHD research, and we are honored to partner with them to support work evaluating EGM technology, including testing and validating EGM-based FSHD assays, which includes CRISPR based assay designs," said Justin Bingham, Chief Commercial Officer at Nabsys. "We believe that EGM and the OhmX Platform have the potential to be a more accessible and insightful tool over current alternatives for the study of FSHD, especially in complex or ambiguous cases."
"We are excited to be working with Nabsys to investigate the use of EGM to advance FSHD research," said Prof. dr. ir. Silvère van der Maarel, Professor of Medical Genetics and Department Chair, Human Genetics at the Leiden University Medical Center. "FSHD1 is impossible to diagnose using standard short-read sequencing (SRS), as it requires the exact counting of the D4Z4 repeat units, where SRS falls short. The current standard of care, Southern blot combined with pulsed-field gel electrophoresis, demands significant technical expertise to interpret and involves radioactivity, making it both a bottleneck and a burden for research and diagnostic labs. There is a clear and pressing need for an accurate and cost-effective alternative. The OhmX Platform's long-read structural variant capabilities offer exactly that: a more practical, scalable solution that could finally modernize FSHD research and beyond."
"Enabling global access to EGM is a key pillar of Nabsys' growth strategy, as we aim to expand the reach of our OhmX Platform to deliver best-in-class genomic interrogation to even more researchers worldwide," said Barrett Bready, M.D., Founder and CEO of Nabsys.
Dr. Bready continued, "Similarly, the data presented today at ESHG continue to demonstrate the unique tools and advantages that EGM provides researchers. By integrating CRISPR/Cas9, the OhmX Platform's scope for researchers is widened to include repeat expansion disorders like Fragile X syndrome and Friedreich's ataxia."
The poster presented at the ESHG 2026 Annual Meeting showcased the OhmX Platform's detection of repeat expansions of key genes in Fragile X syndrome and Friedreich's ataxia via EGM. Researchers used Nabsys' and Hitachi High-Tech's Human Chromosome Explorer® and RepX™ bioinformatics pipelines with assays optimized with CRISPR/Cas9 technology to generate sufficient data to call both FMR1 and FXN repeats, confirming EGM's accuracy and robustness when analyzing samples for repeat expansions that are challenging to analyze by standard techniques. In future research, the Company believes this approach could detect many other repeat expansions, underscoring EGM's advantages, offering integrated workflows for high-resolution analysis of repeat regions in either whole-genome or gene-specific mode, and efficient, scalable detection of repeat expansions. The full poster can be found on Nabsys' website, here.
Nabsys's OhmX Platform is a research-use only EGM technology that is commercially available for labs worldwide.
About Nabsys
Nabsys is advancing genomics with a clear focus on accessibility and innovation through its proprietary electronic genome mapping (EGM) technology. Implemented on the OhmX™ Platform, EGM integrates precision electronics, nanofluidics, and computational biology to deliver high-resolution insight into genome structure. This approach expands what's possible in cytogenetics, molecular genetics, and cell and gene therapy research, while providing comprehensive structural variation analysis to laboratories of all sizes. The company was founded in 2005 and is based in Providence, Rhode Island. For more information, visit www.nabsys.com.
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