Nabsys 2.0, LLC, a pioneer in electronic genome mapping (EGM) technology, has announced a collaboration with Leiden University Medical Center (LUMC) to explore the application of EGM in facioscapulohumeral muscular dystrophy (FSHD) research. This repeat contraction disease has historically been challenging to study using traditional molecular techniques.
Collaboration with Leiden University Medical Center
LUMC is one of the most authoritative centers globally for FSHD research and diagnostics, playing a defining role in shaping international diagnostic guidelines. Under this collaboration, Nabsys is developing a specific EGM-based assay to be run using the OhmX Platform for genomic analysis of FSHD. The aim is to provide D4Z4 repeat counting and resolution, haplotype discrimination, and detection of related recombination events, including complex rearrangements and proximal deletions.
OhmX Platform Advancements Presented at ESHG 2026
In a poster presentation at the European Society of Human Genetics (ESHG) 2026 Annual Meeting, Nabsys demonstrated the OhmX Platform's ability to detect repeat expansion assays via EGM, optimized with CRISPR/Cas9. The integration improves detection and resolution of challenging repeat expansions through targeted placement or blocking of labeling sites.
“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,” 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.”
Expert Commentary
Prof. dr. ir. Silvère van der Maarel, Professor of Medical Genetics and Department Chair at LUMC, commented, “FSHD1 is impossible to diagnose using standard short-read sequencing, as it requires exact counting of D4Z4 repeat units. The current standard of care, Southern blot combined with pulsed-field gel electrophoresis, demands significant technical expertise and involves radioactivity. The OhmX Platform’s long-read structural variant capabilities offer a more practical, scalable solution that could modernize FSHD research.”
Nabsys believes EGM has proven to be a more reliable, simpler, and lower-risk alternative to other tools in various applications, and this collaboration aims to accelerate the evaluation and validation of the assay using well-characterized reference samples.
