Bionano Announces Publication that Demonstrates OGM’s Utility for Resolving Complex Genetic Variation in Inherited Retinal Disease
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders that can cause severe vision loss or even blindness and are often degenerative. Genetic research in this area may help to improve the accuracy of diagnosis, prognostication, and treatment prospects of targeted therapeutics. Approximately 30% of individuals suspected of IRD lack a conclusive genetic diagnosis after genome sequencing has been performed.
Study authors used OGM to search for pathogenic SVs in an IRD sample and resolved a subject that had been genetically unexplained for decades.
- Researchers used OGM to analyze Usher syndrome type-II (OMIM 276901), a recessively inherited disorder characterized by retinitis pigmentosa and congenital hearing loss and associated with variants in several genes, an important one being USH2A
- OGM detected a 173 megabase USH2A-disruptive pericentric inversion on chromosome 1 that had been overlooked and misinterpreted during previous analysis by NGS. The finding by OGM provided a genetic explanation for this subject after decades of research. Reanalysis of NGS data for 427 IRD cases subsequently yielded 30 likely pathogenic SVs in 29 IRD probands. Notably, 8 of the identified pathogenic variants (>25%) were overlooked during the initial analysis
“We are pleased to see the study authors note OGM’s utility for the detection of structural variants that may be relevant to the understanding of IRD. With new gene therapy and clinical trials related to IRD, research into the underlying genetic cause of IRDs is critical. We believe this study underscores the importance of OGM as an integral part of genome analysis, especially in complex disorders where it can aid in discovering new variants and validating the findings of other methods,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.
This publication can be found here.
Bionano’s OGM products are for research use only and not for use in diagnostic procedures.
Forward-Looking Statements of
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “believe,” “can,” “could,” “may,” “might,” “potential,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, OGM’s utility for genetic disease research including research directed to identifying gene disruptive structural variants (SVs) that might contribute to inherited retinal diseases (IRDs) , the ability and utility of OGM to detect SVs compared to next-generation sequencing (NGS), and the ability and utility of combining NGS and OGM data for more comprehensive variant analysis. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: global and macroeconomic events, such as the impact of the COVID-19 pandemic and the ongoing
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Source: Bionano Genomics