The Festival of Genomics & Biodata

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Quantifying Rare: A Data-Driven Approach to Monogenic Disorder Prevalence

June 24, 4:55 pm

Innovation Stage

This presentation will cover:

How cohort selection impacts observed prevalence of monogenic disorders
Why real-world genomic data is critical to overcoming ascertainment bias
How large-scale exome/genome datasets can improve disease modeling and target validation
Real examples of using diverse genetic and clinical data to refine prevalence estimates

Meet the speakers

Mahmoud Husseini

Head of Biopharma at GeneDx, leads initiatives that integrate genomic data into drug discovery and development. Under his leadership, GeneDx has launched tools like Discover to leverage an industry-leading dataset that contributes to the advancement of targeted therapies, particularly for rare genetic disorders.

Sun-Gou Ji

Vice President, Head of Computational Genetics at BridgeBio, leads a team that uses large datasets and computational tools to support decision making across early discovery research and late-stage clinical programs.  