JAN 28, 2021 7:00 AM PST

Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias

Sponsored by: Bionano Genomics
C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Director, Cytogenomics Laboratory, Department of Pathology and Laboratory Medicine at Children's Hospital Los Angeles, Associate Professor of Clinical Pathology, Keck School of Medicine, USC
    Biography
      Dr. Raca is certified in Clinical Cytogenetics and Molecular Diagnostics and oversees cytogenetic and chromosomal microarray testing at the Center for Personalized Medicine at Children's Hospital Los Angeles. Her long-term clinical and research interest is in molecular and cytogenetic mechanisms of genetic disorders and in molecular and cytogenetic diagnostics. Dr. Raca's recent focus has been on application of genomic technologies (chromosome microarray analysis, next generation sequencing and optical genome mapping) in studying hematologic malignancies, particularly Ph-like subtype of pediatric B-cell acute lymphoblastic leukemia. Her additional areas of expertize include genetic diagnostics for seizure disorders and germline predisposition to hematologic neoplasms. Dr. Raca serves on the Children's Oncology Group Cytogenetics Steering Committee, American Collage of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee, College of American Pathologists Cytogenetics Committee, Cancer Genomics Consortium Education Committee and ClinGen Somatic Working Group.

    Abstract
    Date:  January 28, 2021
    Time: 7:00am (PST),  10:00am (EST)
     
    Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine diagnostic assays; they remain cryptic by karyotype analysis and are typically not interrogated by FISH testing or by diagnostic next-generation sequencing panels.
     
    In this webinar, Dr. Raca will present results of a pilot study in which Optical Genome Mapping (OGM) revealed clinically significant structural variants in pediatric leukemias, which were missed by comprehensive multi-modal clinical testing. She will also illustrate the application of OGM to study a rare structural abnormality of the PAX5 gene in pediatric B-lymphoblastic leukemia, which could not be accurately characterized by other molecular methods.
     
    Learning Objectives
    • Outline the main advantages of OGM compared to conventional cytogenetics (karyotype analysis).
    • Summarize how application of OGM facilitates detection of rare clinically significant structural variants in pediatric leukemias
    • Describe how application of OGM facilitates detection and characterization of repeat expansions in constitutional disorders and tumor samples.
     
     
    Webinars will be available for unlimited on-demand viewing after live event.
     
    LabRoots is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program. By attending this webinar, you can earn 1 Continuing Education credit once you have viewed the webinar in its entirety.

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