Bionano:1st study with OGM to identify SVs that may cause MRKH syndrome

Bionano Genomics announced the publication of the first study to evaluate optical genome mapping, OGM, as a method to identify rare structural variants SVs that might contribute to the development of Mayer-Rokitansky-Kuster-Hauser MRKH syndrome. MRKH is one of several forms of Mullerian agenesis, a disorder that affects 1 in 4,500 females and impacts patients’ reproductive systems and potential ability to carry a pregnancy. Molecular diagnosis is helpful in determining the best treatment for MRKH, but because genetic causes are largely unknown, research into this prevalent class of disorders is key to enabling effective therapies. In this study, researchers used OGM to analyze MRKH samples to detect a variety of SVs that may be relevant to MRKH’s genetic etiology in a single assay…We are pleased to see the first study to use OGM to investigate possible genetic causes of MRKH, which is a rare disease which impacts female fertility and that has long challenged the research community. The study, led by Dr. Lawrence Layman, concluded that OGM detected SVs in known and candidate genes associated with MRKH with high resolution and sensitivity for multiple variant classes in a single assay and this may improve our understanding of the cause of the disease. We believe the authors’ findings that indicate mosaicism, including for a trisomy 12, could be involved in the pathogenesis of MRKH were particularly significant," commented Erik Holmlin, PhD, president and chief executive officer of Bionano.