The workshop will introduce participants to the value of RNA sequencing in advanced genetic diagnostics and provide a practical understanding of how RNA sequencing data are analyzed, interpreted, and incorporated into clinical reports. Through hands-on case studies, participants will examine real-world examples in which RNA sequencing performed at SickKids helped establish diagnoses for patients whose conditions had previously remained unexplained.

This workshop is offered jointly by faculty from the Departments of Molecular Genetics and Laboratory Medicine & Pathobiology at the University of Toronto and The Hospital for Sick Children (SickKids), with support from the McLaughlin Centre.

Session 1: RNA-Seq Fundamentals & Applications in Medicine

12:30 PM – 1:30 PM

Introduction to RNA-sequencing in clinical diagnostics. Learn how it complements DNA sequencing by detecting splicing variants, altered expression and transcriptional biomarkers  in disease.

Session 2: Demystifying the Data from RNA-seq

1:30 PM – 2:00 PM

High-level overview of RNA-sequencing data outputs, with a focus on how they are incorporated into clinical reports and interpreted in a diagnostic setting. 

Coffee Break

 2:00 PM – 2:15 PM

Session 3: Interactive Case Studies

2:15 PM – 3:30 PM

Walkthrough of real, de-identified patient cases where RNA-seq successfully solved a diagnostic odyssey.

This session is specifically tailored for clinicians, genetic councillors, clinical trainees (PGYs, fellows and genetic councilling students), and anyone interested in precision medicine.