Day Four of Bionano’s Next-Generation Cytogenomics Symposium Saphyr Solves Genetic Mysteries, Enables Study of Complex Genetic Diseases, Simplifies Muscular Dystrophy Testing
Saphyr can measure large expansions of disease-causing genomic repeats, impossible with other modern techniques, enabling study of a broad range of currently inaccessible genetic
Genetic disease cases undiagnosed using existing methods were solved by optical genome mapping
Assays developed on Saphyr by University of Iowa and KU Leuven for FSHD muscular dystrophy testing provide unambiguous results in half the time, for half the cost of current
Bambino Gesù Hospital in Rome, the largest children’s hospital in Italy, is implementing a Saphyr-based assay they developed for routine diagnostic use in children with genetic
SAN DIEGO, Jan. 15, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that day four of its five-day Next-Generation Cytogenomics Symposium featured seven Saphyr users presenting their results and experiences using the Saphyr system for optical genome mapping (OGM) to analyze the genomes of patients with genetic diseases largely caused by the expansion or contraction of genomic repeats. Repetitive parts of the genome can expand to tens of thousands of copies and alter the function of genes they are in or near. Long repeats are typically inaccessible by sequencing, while OGM’s imaging of long molecules allows for the repeats to be spanned and accurately sized. The presentations by scientists and clinicians from leading hospitals and medical research institutions in Europe and the US showed that Saphyr allows for the study of the many regions of the genome that contain repeats and couldn’t be accurately assessed with sequencing technologies or other modern methods.
Dr. Viola Alesi, Bambino Gesù Children’s Hospital, Rome, presented a clinical validation study of Saphyr for genetic disease testing. They are validating OGM with Saphyr on 30 samples of children that carry chromosomal rearrangements, copy number variants, repeat expansions or have undiagnosed genetic disorders. She presented multiple cases where Saphyr identified several types of structural variants in the same patient, such as a repeat expansion and a deletion that together caused disease, something they had not been able to do with any other single platform. Dr. Alesi announced that the hospital is introducing the assay they developed on Saphyr for routine diagnostic use in the hospital, specifically for patients where standard cytogenetic testing or gene sequencing was unable to make a diagnosis and are currently validating Saphyr for the analysis of pediatric brain tumors.