Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect

Core Insights - Bionano Genomics and Greenwood Genetic Center published a study in Genome Research using optical genome mapping (OGM) to explore the genetic landscape of neural tube defects (NTDs), which are the most common birth defects of the central nervous system [1][2][3] Group 1: Study Findings - The study analyzed structural variants (SVs) in a cohort of 104 NTD cases, identifying genetic factors in 8% of cases, with an additional 13% showing likely pathogenic variants and 9% from mouse models, totaling 30% of cases with potential genetic insights [2][6] - NTDs affect approximately 300,000 births annually worldwide and are a leading cause of infant mortality and lifelong disability [2] - The research highlights the potential of OGM to uncover previously undetected genetic variants and rare structural variants that could enhance understanding of NTDs [3][6] Group 2: Implications and Future Directions - The findings may improve future patient management and guide therapeutic interventions, offering hope to families affected by NTDs [3][6] - The study identified four candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4) with strong potential involvement in NTDs, expanding the clinical implications of known genes associated with NTD risk [6]