Inherited retinal degenerations (IRDs) are a group of heterogeneous diseases that lead to dysfunction and/or degeneration of rod and cone photoreceptors, resulting in blindness or severe impairment of vision. Despite substantial progress in sequencing technologies and over 260 IRD genes already discovered, only about 60% of IRD cases can be genetically diagnosed with the current strategies. The goal of Dr. Bujakowska's research is to discover new genetic causes of IRDs, which includes finding novel IRD genes and a systematic detection and validation of elusive mutations in already known disease genes. For example, her latest study of copy number variation indicates that 7% of IRD patients carry large deletions or duplications in the known IRD genes, thus increasing thediagnostic rate to 67%. Other classes of variants which I is interested in are the non-canonical splicing mutations and variants in the promoter, 5’ and 3’ untranslated regions, which may lead to changes in gene expression.