A Breakthrough in Detecting Genetic Variants
A recent case study published by researchers at Johns Hopkins University has shed light on the capabilities of optical genome mapping (OGM) in detecting genetic variants associated with acute promyelocytic leukemia (APL). This breakthrough has significant implications for the diagnosis and treatment of this aggressive form of cancer.
The Challenges of Conventional Cytogenetics
Conventional cytogenetic techniques, such as karyotyping and fluorescence in situ hybridization (FISH), have been widely used to identify genetic variants associated with APL. However, these methods often fail to detect certain types of variations, including structural variants that can be crucial for determining the best course of treatment.
The Power of Optical Genome Mapping
OGM, developed by Bionano Genomics, has been shown to be a more effective tool in detecting genetic variants associated with APL. In the case study published by Johns Hopkins University researchers, OGM detected a structural variant that was missed by karyotyping and FISH. This variant, classified as a PML::RARA fusion, is known to occur in APL and can be targeted for treatment.
The Importance of Early Detection
APL is an aggressive subtype of acute myelogenous leukemia (AML) that responds well to treatment with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). However, conventional cytogenetic techniques often fail to identify the variants associated with these treatments. According to the case study, approximately 13% of cases of APL are missed or deemed uninterpretable by traditional cytogenetic methods.
OGM: A Game-Changer in Cancer Diagnosis
The identification of the PML::RARA fusion variant by OGM is consistent with previously reported findings that show OGM can detect variants found by standard cytogenetics and identify additional variants that are missed by these techniques. This breakthrough has significant implications for cancer diagnosis and treatment, as it enables researchers and clinicians to reveal answers to challenging questions about the genetic origins of APL.
A Bright Future for Cancer Research
The development of OGM represents a major advancement in cancer research and holds promise for improved diagnosis and treatment outcomes. With its ability to detect genetic variants associated with APL, OGM is poised to revolutionize the field of oncology and provide new hope for patients struggling with this aggressive form of cancer.
About Bionano Genomics
Bionano Genomics is a leading developer of optical genome mapping (OGM) technology. Its mission is to improve human health by providing innovative solutions for genetic analysis and discovery. With its cutting-edge OGM platform, the company aims to empower researchers and clinicians with the tools they need to unlock new insights into the genetic origins of diseases.
Contact Us
For more information about Bionano Genomics and its revolutionary OGM technology, please visit our website or contact us directly:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com
Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625
IR@bionano.com
