Kinga M. Bujakowska, PhD, a molecular geneticist and Assistant Professor of Ophthalmology at Harvard Medical School, has been awarded the Research to Prevent Blindness 2020 RPB International Research Collaborators Award. The award will provide $75,000 of support for her joint research project with Isabelle Audo, MD, PhD, and Christina Zeitz, PhD, at the Institut de la Vision at the Sorbonne University in Paris. The team will focus on improving genetic diagnoses for inherited retinal degenerations and identifying modifiers of disease severity. The project has three objectives: 1) detecting structural variations in the genome that may lead to disease the unsolved IRD cases; 2) uncovering and functionally validating elusive pathogenic variants in IRDs; 3) discovering genetic modifiers of IRD disease severity. The objectives will be achieved through a multilayered collaboration that will include sharing the expertise and knowledge transfer in genomics, bioinformatics, functional validations and disease modeling approaches between the two institutions
Dr. Bujakowska is committed to uncovering the genetic causes of rare mendelian disorders of the retina. After completing postdoctoral training at Institut de la Vision in Paris and the Ocular Genomics Institute at Mass. Eye and Ear, she joined Harvard Ophthalmology full time. Dr. Bujakowska’s research has led to the discovery of six genes associated with inherited retinal degenerations: TOPORS associated with a dominant form of retinitis pigmentosa; IFT172 associated with a recessive syndromic and nonsyndromic IRD; TRPM1, GPR179, and LRIT3 associated with a recessive congenital stationary night blindness; and ITM2B implicated in a new autosomal dominant retinal dystrophy.