About this series – Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.
Title: Monogenic Autoinflammatory Disease: An Overview
This talk will provide an overview of monogenic autoinflammatory disease and given the learner a mechanism to group these disorders by pathology. We will discuss genetic testing strategies and the importance of diagnosis to help manage therapeutic options.
Learning Objectives:
- Describe the main features of several monogenic autoinflammatory disorders.
- Recommend a genetic testing strategy for a patient presenting with autoinflammatory symptoms.
Speaker: Dr. Ashish Marwaha
Bio
Ashish (Ash) Marwaha is an early career clinician scientist and clinical medical geneticist focusing on complex immune dysregulation disorders. He has used a collaborative approach to build an integrated research care pathway that aims to diagnose the cause of rare diseases and lead to improved targeted treatment. His research expertise includes whole genome sequencing, RNA sequencing, polygenic risk score analysis, epigenomics and machine learning integration of multi-omic data. He ultimately wants to use his extensive clinical trial experience to implement precision therapy for this patient population.
Friday, October 20, 2023
Friday, November 17, 2023
Friday, December 15, 2023
Friday, January 12, 2024 (date changed)
Friday, February 16, 2024
Friday, March 15, 2024 (date may change)
Friday, April 19, 2024
Friday, May 17, 2024
Friday, June 21, 2024
