RNUopathies: A New Frontier in Genetics

Includes a Live Web Event on 06/10/2026 at 12:00 PM (EDT)

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Hector Rodrigo Mendez, MD, will present “RNUopathies: A New Frontier in Genetics,” offering a comprehensive overview of this emerging class of splicing disorders. Building on this foundation, he will discuss his recent findings on how bi-allelic RNU6ATAC variants drive transcriptome-wide minor intron retention and complex multisystem manifestations.