Bionano Genomics (BNGO, Financial) has reported a significant advancement in genetic research, with a study published in Genome Research. The study highlights the potential of Optical Genome Mapping (OGM) as a precise and cost-effective method for identifying and quantifying large repeat expansions, a form of structural variation associated with approximately 40 genetic disorders.
The research, led by Alexander Hoischen and his team at Radboud University Medical Center in the Netherlands, offers a comprehensive evaluation of OGM as a standalone tool for characterizing large repeat expansions. The study assessed 85 participants who all had known pathological expansions in three genes: DMPK, CNBP, and RFC1.
Among the conditions linked to these genetic variations is a disorder known as Myotonic Dystrophy (DM), which is associated with progressive muscle weakness and wasting affecting both skeletal and smooth muscles. Another condition, Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS), involves a gradual loss of coordination, sensory nerve damage, and disturbances in balance reflexes.
This breakthrough underscores the utility of OGM not only as a precise diagnostic tool but also as a means to streamline genetic investigation processes, potentially leading to improved understanding and management of various genetic disorders.
