JUN 22, 2016 8:00 AM PDT

Applications of targeted NGS panels for clinical research of primary immunodeficiency diseases

  • Assistant Professor at Boston Children's Hospital and Harvard Medical School
      Janet Chou is an Assistant Professor of Pediatrics at Harvard Medical School and an allergy/immunologist at Boston Children's Hospital. Her research focuses on the genetic and molecular mechanisms underlying human primary immunodeficiencies, with an emphasis on identifying rational targeted approaches for immunomodulation. Her experience as a clinical immunologist drives her search for more precise and rapid ways of understanding immune dysregulation. Janet received her M.D. from Harvard Medical School. She completed a residency in pediatrics and a fellowship in allergy and immunology, both at Boston Children's Hospital.
    • Research Technologist, Boston Children's Hospital
        Wayne Bainter is a Research Technologist at Boston Children's Hospital. His expertise encompasses the application of genetic approaches in the study of human immune disorders, functional analysis of the immune system, and characterization of murine models of human disease. In his current role, he is leading the targeted next-generation sequencing initiative in the Geha Laboratory at Boston Children's Hospital. Wayne graduated from Salve Regina University with a BS in Biology and minor in Chemistry.

      Primary immunodeficiencies (PIDs) are a group of more than 250 genetic disorders that disrupt the immune system, resulting in susceptibility to life-threatening infections, autoimmune disease, or malignancy. 

      Identifying the genetic causes of PIDs is essential for understanding the molecular pathways leading to these diseases, but is challenging because of phenotypic heterogeneity, pleiotropy, and the accessibility of genetic testing.

      The advent of next-generation sequencing (NGS) has been instrumental in accelerating the pace of discovery in the field of PID research and testing. NGS enables high-throughput screening of many genes in a rapid, cost-effective manner and thus has the potential to transform the strategies and workflow of research on PIDs. 

      In this webinar, our expert speakers will discuss how they implemented a next-generation sequencing approach to PID research in a translational research lab. They will present their hands-on experience in utilizing a targeted NGS panel, compare it to conventional approaches for studying PIDs, and demonstrate the applications of this technology to translational research in PIDs.

      For Research Use Only. Not for use in diagnostic procedures.

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