This series is for genetics health professionals led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators. The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.
October 28 – RNA Sequencing In The Clinical Laboratory: The Sickkids Experience
In recent years, the use of next-generation sequencing (NGS) and the ability to sequence the entire genome has increased the diagnostic rate for both rare diseases and cancer. However, despite rapid advances in our understanding of the human genome, nearly two-thirds of the patients with suspected rare genetic disorders remain without a conclusive molecular genetic diagnosis. RNA sequencing has the potential to improve our ability to interpret the functional and clinical significance of the genetic variants. We will review the role of RNA sequencing in a number of clinical scenarios and the path to developing and integrating innovative whole transcriptome analysis in clinical diagnostics.
Learning objectives:
Describe the path to developing and implementing RNA sequencing in the clinical laboratory
Identify current and future clinical applications of RNA sequencing
Target audience: Geneticists, Trainees
CanMEDS Roles: Medical Expert (the integrating role), Collaborator, Health Advocate, Scholar, Professional
Bio
Dr. Lianna Kyriakopoulou is currently a director of Genome Diagnostics at the Hospital for Sick Children and Assistant Professor at the Department of Laboratory Medicine and Pathobiology at the University of Toronto. She received her PhD in Microbiology and Molecular and Medical Genetics from the University of Toronto. She is certified by the Canadian Academy of Clinical Biochemistry and the American College of Medical Genetics in Clinical Molecular Genetics. Dr. Kyriakopoulou’s professional interests are in the areas of genetic metabolic disorders and diagnostic assay development using high-throughput methodologies and genomic tests, particularly for rare disorders.
All Dates
September 23
October 28
November 25
December 16
January 27
February 24
March 31
April 28
May 26
June 30
Click HERE to register.
