(March 24, 2025) – SAN DIEGO, CA, and GREENWOOD, SC ― (GLOBE NEWSWIRE) ― Bionano Genomics, Inc. (Nasdaq: BNGO) and Greenwood Genetic Center (GGC) today announced a publication in Genome Research describing the first study to use optical genome mapping (OGM) to investigate the genetic landscape of neural tube defects (NTDs). NTDs are the most common birth defect of the central nervous system and some of the most devastating congenital conditions. Despite an expected genetic link in as many as 60-70% of cases, methods currently in use, including karyotyping (KT), chromosomal microarray (CMA), and next-generation sequencing (NGS), collectively identify pathogenic gene variants in only about 8% of cases, suggesting more work is needed to better understand the underlying genetic drivers of NTDs.
In this GGC study, OGM was used to provide a comprehensive, genome-wide analysis of structural variants (SVs) across a study cohort of 104 NTD cases. The key findings include:
- Detection of SVs with known pathogenic significance in 8% (8/104) of cases, compared to a combined success rate of approximately 6% in NTDs for KT and CMA and consistent with what is typically described in research studies for the combination of KT, CMA and NGS applied to this condition
- Detection of SVs that affected genes known to be part of NTD pathways in 13% (14/104) of cases, which would be considered likely pathogenic given their association with known NTD pathways
- Detection of SVs that affected genes associated with NTDs in mouse models in 9% (9/104) of cases, which require additional investigation to establish a link to NTDs in humans, but represent promising candidates that were previously unreported
- Discovery of novel NTD candidate genes and expansion of clinical implications of others, with identification of four genes – RMND5A, HNRNPC, FOXD4, and RBBP4 – having strong potential involvement in NTDs, and add NTD risk to the known clinical implications of AMER1 and TGIF1
Neural tube defects impact approximately 300,000 births annually worldwide and remain a leading cause of infant mortality and lifelong disability. This research identified genetic factors in 8% of cases, with additional likely pathogenic variants in 13% of cases and other potential insights from mouse models in 9% (30% of cases combined) illustrating the potential utility of OGM for helping to better understand the genetic basis of NTDs.
“While folic acid supplementation has helped to significantly reduce occurrences of NTDs, many parents still grapple with the heartbreak of an NTD without knowing why it happened,” commented Dr. Steve Skinner, president and CEO of GGC. “This study underscores our commitment to helping these families with cutting-edge research, including with novel techniques like OGM and it marks an important step forward, offering them not just scientific progress, but a renewed sense of hope for a better understanding of their child’s condition.”
“This research brings something invaluable – insights into potential genetic drivers for NTDs that may have remained unknown without OGM,” said Erik Holmlin, president and CEO of Bionano. “Optical genome mapping has not only revealed previously undetected genetic variants but has also uncovered rare structural variants that can deepen our understanding of NTDs. I believe the reported findings mark a significant advancement in the field and may improve future patient management and guide future therapeutic interventions.”
The full research publication is available at: https://pubmed.ncbi.nlm.nih.gov/40107724/
About Bionano
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services. For more information, visit www.bionano.com or www.bionanolaboratories.com. Bionano’s products are for research use only and not for use in diagnostic procedures.
Photo: First author on the publication, Dr. Nikhil Sahajpal, Assistant Director, GGC Diagnostic Laboratories