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Bionano Announces First Study Using OGM to Discover Structural Variants with Potential Relevance to Genetic Diagnosis of MRKH Syndrome, a Syndrome Impacting Reproductive System Development in 1 in 4,500 Females
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is among several forms of Müllerian agenesis, a disorder impacting 1 in 4,500 females which is indicated by the
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[{"type":"text","content":"Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is among several forms of Müllerian agenesis, a disorder impacting 1 in 4,500 females which is indicated by the absence or underdevelopment of the female reproductive systemResearchers in the study hypothesized that a genome-wide structural variant (SV) analysis would result in the identification of rare SVs relevant to MRKH’s genetic etiology, which might lead to better understanding of the syndrome and ultimately inform potential therapies and treatmentOGM was used to analyze samples from 47 parents and 87 individuals with MRKH, to detect a variety of rare SVs that may be linked to MRKH SAN DIEGO, March 22, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today 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 Müllerian 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. MRKH is a syndrome that impacts approximately 7-10% of females and presents with two distinct clinical phenotypes that primarily affect the female reproductive system: The condition causes the vagina and uterus to be underdeveloped or absent, and affected patients are usually unable to carry a pregnancyMRKH is often identified at puberty when a female does not begin menstruatingType I consists of congenital absence/hypoplasia of reproductive organsType II may also be associated with skeletal, auditory, and/or cardiac valve abnormalities The research study from Augusta University used OGM to analyze samples from 87 individuals with MRKH. MRKH was defined as the congenital absence of the uterus and vagina with or without associated anomaliesSamples from 47 parents were also analyzed since there is evidence for a genetic component in some patients ...