A collaboration between Nabsys and Leiden University Medical Center will evaluate an electronic genome mapping assay designed to detect the repeat contractions associated with facioscapulohumeral muscular dystrophy, a condition that is difficult to diagnose with standard sequencing.
Nabsys announced a collaboration with Leiden University Medical Center to utilize electronic genome mapping for research into facioscapulohumeral muscular dystrophy (FSHD), a repeat contraction disease that has historically been challenging to study using traditional molecular techniques.
The partnership involves the development of a specific electronic genome mapping-based assay for the OhmX Platform to provide counting and resolution of genetic repeats, haplotype discrimination, and the identification of complex rearrangements. Leiden University Medical Center, an institution that helps shape international diagnostic guidelines for FSHD, will work with Nabsys to validate the assay using well-characterized reference samples.
“FSHD1 is impossible to diagnose using standard short-read sequencing, as it requires the exact counting of the D4Z4 repeat units, where short-read sequencing falls short,” says Silvère van der Maarel, professor of medical genetics and department chair of human genetics at the Leiden University Medical Center, in a release.
According to van der Maarel, the current standard of care relies on Southern blot combined with pulsed-field gel electrophoresis, which requires significant technical expertise and involves radioactivity. These factors create a bottleneck for research and diagnostic laboratories, leading to a need for more practical and scalable solutions.
In addition to the collaboration, Nabsys presented data at the European Society of Human Genetics (ESHG) 2026 Annual Meeting. The presentation demonstrated the ability of the OhmX Platform to detect repeat expansions when optimized with CRISPR/Cas9 technology. By using this method, researchers were able to generate data to identify repeats in genes associated with Fragile X syndrome and Friedreich’s ataxia.
“We believe that [electronic genome mapping] 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,” says Justin Bingham, chief commercial officer at Nabsys, in a release.
The platform integrates electronics, nanofluidics, and computational biology to provide insight into genome structure. The company aims to provide this structural variation analysis to laboratories of various sizes to support research in cytogenetics and molecular genetics.
“Enabling global access to [electronic genome mapping] 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,” says Barrett Bready, MD, CEO of Nabsys, in a release.
