Genomic Breakthrough: Nabsys' New Map for Human Disease

YOKOHAMA, JAPAN – December 17, 2025 – The world of genomic research is turning its attention to Yokohama this week, as a pioneering technology that creates high-definition maps of the human genome takes center stage. Nabsys, a US-based life sciences company, in a powerful alliance with Japanese technology giant Hitachi High-Tech Corporation, is presenting compelling new data on its OhmX™ platform at the prestigious Japanese Society of Human Genetics (JSHG) Annual Meeting. The presentations highlight a significant leap forward in identifying large-scale genomic changes, known as structural variations (SVs), that are often the hidden culprits behind rare diseases and cancers.

For years, genomics has been dominated by sequencing, the process of reading DNA letter by letter. While revolutionary, this approach can struggle to see the "big picture"—large insertions, deletions, or rearrangements of DNA that can disrupt gene function. Nabsys' electronic genome mapping (EGM) offers a different, complementary view, providing a crucial tool for researchers and clinicians navigating the most complex corners of the human genome.

A Higher Resolution Look at DNA's Architecture

At the heart of the excitement is Nabsys' proprietary EGM technology. Unlike traditional sequencing, which chops DNA into small pieces to be read and reassembled, EGM analyzes extremely long, intact DNA molecules. The OhmX platform threads these molecules through nanochannels equipped with electronic detectors, creating a high-resolution map of specific DNA tags. This process allows scientists to visualize the genome's structure with unprecedented clarity, revealing SVs as small as 300 base pairs—a resolution that bridges the gap between lower-resolution cytogenetics and the sometimes-ambiguous results of sequencing.

This technological approach directly addresses a major challenge in genomics. While next-generation sequencing (NGS) is excellent at finding small mutations, it often misses larger SVs, especially in repetitive regions of the genome. Long-read sequencing (LRS) technologies have improved this but can be costly and computationally intensive, sometimes generating false positives. Nabsys' EGM is being positioned as an essential, cost-effective tool for orthogonal validation, allowing labs to quickly and accurately confirm, clarify, or even discover SVs identified by other methods.

Independent research has shown high concordance between EGM and established long-read sequencing for certain variants, but critically, it has also succeeded where other methods have failed. Its ability to provide clear results for complex rearrangements makes it a powerful asset in the quest to understand the full spectrum of human genetic variation.

Hope for the Undiagnosed and New Frontiers in Cancer Research

The real-world impact of this technology is most profoundly felt in the realm of rare and difficult-to-diagnose diseases. For countless families, the journey to a diagnosis is a long and frustrating odyssey. Nabsys' technology offers a new path forward.

In a luncheon seminar scheduled for December 18, Nabsys and Hitachi will feature data from a partnership with Boston Children's Hospital. Dr. Catherine Brownstein, M.P.H., Ph.D., a leading researcher from the hospital and Assistant Professor at Harvard Medical School, is a key speaker. "Nabsys' EGM technology, which delivers high resolution analysis of genome-wide structural variation, enabled us with insights into previously undetectable structural variation and has thus become a crucial tool to understand underlying disease etiology of particularly rare or difficult-to-diagnose diseases," Dr. Brownstein remarked in the announcement.

One striking case study from Dr. Brownstein's work involved a patient with X-linked hypophosphatemia. Traditional methods had failed to fully resolve the underlying genetic cause, but the OhmX platform successfully verified a complex 60,150 base-pair tandem duplication in the PHEX gene. This concrete example underscores EGM's power to provide definitive answers where other technologies fall short, accelerating gene discovery and offering hope to patients without a diagnosis.

The platform's utility extends beyond rare diseases into the complex landscape of cancer genomics. At the JSHG meeting, a scientific poster will detail the use of EGM for high-resolution detection of deletions in the TP53 gene, one of the most important tumor suppressors in the human body. Accurately identifying such deletions is critical for cancer prognosis and treatment decisions, and the data suggests EGM provides a robust and efficient method for this crucial analysis.

The Power of a Strategic Alliance

The rapid emergence of the OhmX platform onto the global stage is not just a story of technological innovation, but also one of strategic partnership. The collaboration between Nabsys and Hitachi High-Tech has evolved from an early investment into a full-fledged acquisition, creating a formidable force in the genomics market.

The relationship began in 2019 when Hitachi High-Tech led a $21 million investment round in Nabsys, seeing the potential of EGM to meet the growing demand for scalable structural variation analysis. This was followed by subsequent funding rounds that enabled Nabsys to finalize the development of its second-generation platform.

In August 2024, Hitachi High-Tech solidified the partnership by acquiring a majority interest in Nabsys, making it a consolidated subsidiary. This move provides Nabsys with the immense resources and global commercial infrastructure of the Hitachi High-Tech Group, poised to accelerate the adoption of the OhmX platform worldwide. The collaboration is deeply integrated, with Hitachi contributing to the development of the cloud-based Human Chromosome Explorer (HCE) analytics suite that powers the OhmX system. This synergy aims to build unique, end-to-end solutions for researchers tackling cancer and undiagnosed diseases.

"We are pleased to present a breadth of new and important research at this year's JSHG meeting that elucidates the real-world impact our product, the OhmX Platform, is having on researchers," stated Barrett Bready, M.D., founder and CEO of Nabsys. "The luncheon seminar and our research speak to the importance of speed, accessibility, and accuracy in researching whole-genome structural variations, and we are proud to share additional data that demonstrate how our platform has revolutionized genome mapping."

This deep integration signals Hitachi's strategic push to strengthen its molecular diagnostics business and Nabsys' ambition to make its technology a staple in laboratories of all sizes. The JSHG presentations are a clear demonstration of this joint effort to not only innovate but also to deliver that innovation into the hands of the scientists who can use it to make a difference. The combined strength of Nabsys' cutting-edge science and Hitachi's industrial and commercial power is set to reshape the competitive landscape of genomic analysis tools.