Rare Genomics Workshop

From Diagnosis to Therapeutics: Institutional and International Approaches to Rare Disease Genomics

A highly interactive workshop bringing together leaders in rare disease genomics from Boston Children’s Hospital, Dubai Health’s Al Jalila Children’s Hospital, and the region to explore scalable institutional programs, international consortia, AI-enabled interpretation, non-coding and multi-OMIC approaches, and pathways from diagnosis to therapeutics.

Program Highlights:

• Screening, Early Detection & Prevention: Newborn and population genomic screening, and pathways to earlier diagnosis and intervention.
• Bridging Boundaries: Why international rare disease consortia matter for diagnosis, gene discovery, and clinical action.
• New Frontiers for Unsolved Cases: Long-read sequencing, multi-OMICs, non-coding variation, and AI tools to improve diagnostic yield.
• From Genomics to Therapeutics: Platforms for functional validation, drug repurposing, gene-based therapies, and clinical translation.

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