Kinga Bujakowska, PhD, an Assistant Professor of Ophthalmology at Harvard Medical School, is the 2023 recipient of the Iraty Award for Research in Retinal Diseases. The award, which includes a $100,000 prize, was established thanks to a generous donation by François C. Delori, PhD, a former Senior Scientist at Schepens Eye Research Institute of Mass Eye and Ear, and his wife, Rosamond Castle Putnam, to pay tribute to the life and work of Dr. Charles Schepens—the father of modern retinal surgery and a World War II hero.
Dr. Bujakowska's research is focused on discovering new genetic causes of inherited retinal disorders (IRDs), including finding novel IRD genes and the systematic detection and validation of elusive mutations in already known disease genes.
This award will support Dr. Bujakowska's research to elucidate retinal gene function. Considerable progress in genomics research has been made with cataloguing coding and non-coding genes, as well as active chromatin elements. Despite these efforts, fewer than 25% of genes have been assigned function in the context of human disease, which limits our ability to diagnose Mendelian diseases, including IRDs. Dr. Bujakowska believes that an important part of the missing causality in the retinal diseases lays in our limited understanding of the function of the majority of retina expressed genes, preventing correct interpretation of variants hidden in them.
She and her team will perform a CRISPR-based knockout screen of 100 genes that are enriched or unique in the retina. This approach has enormous potential for advancing our understanding of retinal biology and for the development of future treatments.