MAY 11, 2017 10:30 AM PDT

Rapid Whole Genome Sequencing in the NICU and PICU at Rady Children's Hospital

Speaker
  • Clinical Laboratory Director, Rady Children's Institute for Genomic Medicine
    Biography
      Shimul Chowdhury serves as a clinical laboratory director at the Rady Children's Institute for Genomic Medicine (RCIGM). Prior to joining the RCIGM team, Dr. Chowdhury served as a Senior Scientist in the Illumina Clinical Services Laboratory in which he reviewed and analyzed patient genomes for rare and undiagnosed disease as well as healthy individuals. Dr. Chowdhury has also served as a clinical laboratory director at Quest Diagnostics. Dr. Chowdhury is licensed as a clinical laboratory director for molecular genetics by the state of California. He conducted his American Board of Medical Genetics and Genomics (ABMGG) clinical molecular genetics fellowship at Sacred Heart Medical Center in Spokane, Washington. He obtained his PhD in Clinical and Translational Sciences at the University of Arkansas for Medical Sciences, and his Bachelors of Science at the University of Minnesota- Twin Cities. He is an active member of the Association for Molecular Pathology, the American Society of Human Genetics and is a fellow of the American College of Medical Genetics and Genomics.

    Abstract

    Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of these patients. Rady Children’s Institute for Genomic Medicine (RCIGM) is focused on providing rapid whole genome sequencing to help improve the outcomes of these infants in the intensive care units. Early results of the study have shown the benefit of rapid whole genome sequencing in these infants in terms of diagnostic yield and clinical outcomes compared to the current standard of care. Developing solutions to make this testing scalable and affordable shows promise to positively impact infants worldwide and change the current practice of medicine in the intensive care units.


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