Beyond the Exome: What's Next in Diagnostic Testing for Rare Genetic Disorders

Co-Moderator(s)

• 

  Jianling Ji, MD, MS, FACMG

  Assistant professor, assistant director
  Children's Hospital Los Angeles, University of Southern California
  Los Angeles, California, United States
• 

  Honey Reddi, PhD

  Medical College of Wisconsin
  Milwaukee, Wisconsin, United States

Presentations:

• 10:15 AM - 10:35 AM MST

  Streamlining Clinical Genetic Testing: The Promise of Long-Read Sequencing
  

  Speaker: Danny Miller, MD, PhD (he/him/his) – University of Washington
• 10:35 AM - 10:55 AM MST

  Advancing Technologies and Methods can Redefine How and When to Capture Genetic Risk in Mendelian Disorders
  

  Speaker: Michael E. Talkowski, PhD (he/him/his) – Center for Genomic Medicine of Massachusetts General Hospital, Harvard Medical School
• 10:55 AM - 11:15 AM MST

  Novel Diagnostic DNA Methylation Episignatures Expand and Refine the Epigenetic Landscapes of Mendelian Disorders
  

  Speaker: Bekim Sadikovic, PhD – London Health Sciences Centre, Western University, London, ON, Canada.
• 11:15 AM - 11:45 AM MST

  Panel Discussion
  

  Speaker: Michael E. Talkowski, PhD (he/him/his) – Center for Genomic Medicine of Massachusetts General Hospital, Harvard Medical School

  Speaker: Bekim Sadikovic, PhD – London Health Sciences Centre, Western University, London, ON, Canada.

  Speaker: Danny Miller, MD, PhD (he/him/his) – University of Washington