Full Breakdown
Nabsys Unveils Advancements in Electronic Genome Mapping at ASHG 2025
10/17/2025, 1:54:11 PM
Key Findings on Interstitial Cystitis/Bladder Pain Syndrome
At the American Society of Human Genetics (ASHG) Annual Meeting held from October 14-18, 2025, in Boston, Massachusetts, Nabsys 2.0, LLC presented significant findings regarding interstitial cystitis/bladder pain syndrome (IC/BPS). A comprehensive multi-omics study conducted by researchers at Boston Children’s Hospital revealed that 70% of patients with IC/BPS also have psychiatric comorbidities, predominantly anxiety and depressive disorders. The study analyzed a cohort of 248 individuals with IC/BPS and compared it to 100 individuals from the Maryland Genetics of Interstitial Cystitis Study (MaGIC) cohort, totaling 348 participants. The findings included the identification of 13 differentially expressed proteins linked to key disease-signaling pathways, although no single gene was definitively associated with IC/BPS risk.
Novel Applications of the OhmX™ Platform
Nabsys showcased the capabilities of its OhmX™ Platform, which utilizes electronic genome mapping (EGM) technology for structural variant (SV) detection. The platform demonstrated its effectiveness in identifying clinically significant SVs in hematological malignancies, including a previously undetected translocation involving the NOTCH1 gene. The association between IC/BPS and Mendelian disease genes was also strengthened, particularly with the presence of anxiety as a comorbid condition, which significantly increased the odds ratio for variants in these genes.
Enhancements in Structural Variant Detection
The OhmX Platform employs a dense, sequence-specific tagging strategy that allows for high-resolution mapping of genomic alterations. Nabsys presented multiple posters detailing advancements in EGM technology, including the introduction of CRISPR/Cas9 to improve the accuracy of structural variant analysis. This integration helps mitigate double-strand breaks during sample preparation, enhancing the platform's overall efficacy.
Workflow Optimizations and Future Implications
In addition to its findings on IC/BPS, Nabsys highlighted workflow optimizations that improve the speed and accuracy of genomic analysis. The implementation of simultaneous dual nicking and labeling (SNL) chemistry resulted in an eight-fold increase in assembly contiguity and a 24% increase in structural variant recall, while maintaining equivalent precision. Barrett Bready, M.D., founder and CEO of Nabsys, emphasized the importance of these advancements in providing researchers with a more comprehensive view of the human genome.
Official Statements & Responses
Nabsys's presentations at ASHG 2025 underscored the company's commitment to advancing genomic analysis. Bready stated, “The CoLab session and our research speak to the importance of speed, accessibility, and accuracy in researching whole-genome structural variations.” The findings presented are expected to facilitate breakthroughs in understanding genetic mediators of diseases previously considered challenging to trace.
Verbatim Quotes
- “Interstitial cystitis and bladder pain syndrome are characterized by persistent and distressing symptoms that frequently lead to poor quality of life and high levels of mental stress, but there is no known cause or available treatment option for this condition, which affects millions of people in the U.S. alone,” — Elicia A. Estrella, M.S., LCGC, Boston Children’s Hospital
- “By implementing SNL workflows and removing heat inactivation, we are able to achieve faster results without compromising the integrity of the output.” — Barrett Bready, M.D., founder and CEO of Nabsys
Nabsys's contributions at the ASHG 2025 Annual Meeting reflect a significant step forward in the field of genomic research, particularly in understanding complex diseases and enhancing diagnostic capabilities.
