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  • Rare Disease Day is February 28, 2021

Rare Disease Day falls on the last day of February every year with the objective to raise awareness about rare disease and the impact on patients’ lives. Visit rarediseaseday.org to learn more about the day and the importance of building awareness. At Bionano, we believe in the pursuit of the truth in genomics. Recently, Optical Genome Mapping using Saphyr has been used to find new discoveries in rare disease research and undiagnosed cases. Read on to learn more about these studies and watch presentations by their authors.

Dr. Pui-Yan Kwok, professor at the University of California, San Francisco, presented a webinar on a publication from the Institute for Human Genetics and the Benioff Children’s Hospital at UCSF. It evaluated the ability of Bionano’s optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%). Read more about the study here.

Dr. Hayk Barseghyan, Professor at George Washington University in Washington, DC, uses Saphyr at Children’s National Hospital to study patients with Disorders of Sex Development and other undiagnosed genetic diseases. Dr. Barseghyan presents six cases solved with Saphyr, some including structural variants that had never before been reported in any genomic variant database. His work is an excellent example of how OGM with Saphyr may result in more patients receiving definitive diagnoses and more patients being managed effectively as the result of a higher diagnostic yield with Saphyr. Watch the recorded presentation here.

Minyue Dong, MD, PhD, Director of the Department of Reproductive Genetics at Zhejiang University in China, presented on a case of a family with two pregnancies in which the fetuses showed severe brain malformations. Exome sequencing found a variant inherited from the father, but that finding alone couldn’t explain the disease. Saphyr found a tandem duplication disrupting the same LAMA1 gene, inherited from the mother. Both variants combined disrupt both copies of the gene, causing the disease. Click here to watch the presentation and learn more about their findings.

Bionano optical genome mapping using Saphyr starts at $450 per genome for unbiased and genome-wide structural variation detection. With one simple workflow, discover the variants that are missed by short and long-read sequencing. To learn more about how Saphyr can be used for genetic disease research, click here.

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