Clinical researchers to present results from studies evaluating Bionano's Saphyr
Bionano Genomics announces presentations of initial results of two key clinical studies at the European Human Genetics Conference, the annual conference of the European Society of Human Genetics. In a workshop on June 16, speakers from leading clinical research hospitals in Europe who are evaluating Bionano optical mapping with the Saphyr system against traditional cytogenetics workflows, will present initial results that demonstrate Saphyr's ability to modernize existing workflows. Dr. Alexander Hoischen, PhD, from Radboud University Medical Center in the Netherlands, will provide an update on their study comparing Bionano optical mapping with Saphyr to the current clinical testing workflows for Chronic Myelogenous Leukemia and Acute Lymphoblastic Leukemia among other hematologic malignancies and some genetic disorders. In a second presentation, Dr. Laila El-Khattabi, PharmD, PhD, from Hopital Cochin - Paris Descartes University, will present results where the Saphyr system has been used to detect a wide variety of balanced and unbalanced chromosomal abnormalities that occur in reproductive disorders, such as those causing recurrent pregnancy loss. The workflow based on the Saphyr system has the potential to dramatically simplify patient testing by consolidating the traditional approach into a single workflow compared to current practice, which relies on multiple platforms and can be cumbersome, slow and costly. In addition, compared to existing methods like karyotyping, Bionano optical mapping with Saphyr has significantly higher resolution of the breakpoints of the chromosomal rearrangements that are detected, which makes it possible to more definitively identify the genes affected by the mutation and could improve patient management and therapy selection.