CGC Webinar - April 26, 2022

Whole genome DNA methylation testing represents an emerging technology with demonstrated utility for the diagnosis of a growing number of epigenetic and imprinted disorders. The characterization of aberrant methylation profiles in affected patients has had a tremendous impact on our understanding of gene regulation in various growth and developmental processes and has highlighted a role for epigenetics in modulating a variety of clinical phenotypes. Translation of DNA methylation testing into the clinical setting thus represents an important addition to the genomics diagnostic toolbox. This webinar will highlight some of these applications.

Dr. Sanaa Choufani is a Senior Research Associate in the lab of Dr. Rosanna Weksberg at The Hospital for Sick Children. Dr. Choufani has been instrumental in the discovery and implementation of DNA methylation signature in neurodevelopmental disorders. She has extensive experience in DNA methylation-based assays and in the bioinformatic pipelines used to generate disease scores for variant classification. Dr. Choufani has a track record of high impact publications in the field of DNA methylation and its role in disease etiologies.

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