CRISPR and Diagnostics: Challenges and Strategies for Understanding Results from Sequencing including Variants of Unknown Significance


Diagnosis of disease has been revolutionized by next-generation sequencing (NGS) tools, but their use presents challenges to the clinician and to the laboratory. We discuss rationale approaches to diagnosis based on data; the use of exome, whole genome, and gene panel testing; and the hurdles created by identification of novel genes, mutations, and variants of unknown significance (VUS). Finally, we present and discuss the use of CRISPR, other novel technologies, and available resources, that can address the avalanche of data from NGS.

Originally published on August 1, 2019

Lecture Presenter

Joshua L. Bonkowsky, MD, PhD

Joshua L. Bonkowsky, MD, PhD

Associate Professor, Pediatrics, Assistant Chief, Division of Pediatric Neurology, Bray Chair in Child Neurology Research
University of Utah School of Medicine

Josh Bonkowsky is an associate professor of Pediatrics at the University of Utah School of Medicine. After graduating from Harvard College, he received a Fulbright Fellowship to Vienna, Austria. He received his MD and PhD degrees from the University of California, San Diego, and completed residency training at the University of Utah (pediatrics), Children’s Hospital of Boston and University of Utah (pediatric neurology). A physician-scientist, he studies genetic mechanisms of nervous system development and disease, including prematurity, leukodystrophies, and epilepsy. His bibliography includes over 75 peer-reviewed articles. His lab has been at the forefront of using CRISPR, zebrafish, and other novel tools. Since 2006, Dr. Bonkowsky has personally mentored 49 trainees, 29 of whom are women or minorities. In his “spare” time he enjoys playing with his kids, coaching his daughter’s soccer team, and trail running.


After this presentation, participants will be able to:

  • Recognize the benefits and challenges related to evaluating patients with neurological diseases using next-generation sequencing
  • Describe the key concepts of CRISPR technology applied to Zebrafish
  • Evaluate the use of CRISPR technology in Zebrafish as a tool to assess pathogenicity of variants identified in patients with neurological diseases by next-generation sequencing

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories