Marianna_Weener
I’m a physician-scientist at Ocular Genomics Institute, Harvard Medical School, 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 maintaining 10,000+ patient IRD registry, I bridge high-resolution phenotyping with advanced sequencing analytics. My 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. I also consult for top global gene therapy biotech and pharma companies, guiding computational pipeline design, data strategy, and translational decision-making.