Dr. Marianna Weener is a physician-scientist specializing in inherited retinal degenerations (IRDs) with deep expertise in applying AI-driven variant interpretation, functional genomics, and multimodal data integration to unsolved genetic disease. With 15+ years of clinical experience and leadership of a 15,000+ patient IRD registry, she bridges high-resolution phenotyping with advanced sequencing analytics. Her current work leverages machine learning–assisted prediction of cryptic exons and a high-throughput splicing assay (HTSA) platform to validate deep intronic variants, developed in collaboration with the Broad Institute’s Medical Population Genetics group. Dr. Weener also consults for top global gene therapy biotech and pharma companies, guiding computational pipeline design, data strategy, and translational decision-making.