Marianna Weener
Senior Researcher Massachusetts Eye and Ear
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.
Seminars
- Field overview of patient-derived iPSCs and retinal organoids, which provide a disease-relevant, human preclinical platform enabling functional validation of gene editing and cell therapies directly in photoreceptors, overcoming limitations of animal models
- Functional recovery validates therapeutic potential: restoration of key phototransduction components (e.g., PDE6, RHO, and others) in organoids confirms that genetic correction translates into biologically meaningful rescue, supporting singledose, gene and mutation-targeted therapies
- This approach helps to evaluate the efficacy, delivery strategies, and safety of genome-editing therapies across diverse monogenic diseases, supporting both regulatory decision-making and therapeutic development pipelines
