We are thrilled to announce Karolina Kaminska has been honored with the Early Career Award for outstanding research by young scientists at the ESHG 2024 conference in Berlin. This prestigious award was presented in recognition of her spoken contribution entitled “Mutations in COQ8B are a novel cause of recessive non-syndromic retinitis pigmentosa.”

Karolina’s presentation highlighted the discovery of biallelic variants in the gene COQ8B as a new cause of recessive non-syndromic retinitis pigmentosa, a type of inherited retinal degeneration. This groundbreaking finding was based on the study of four families from Portugal and the United Kingdom who carry these specific genetic mutations.

Her innovative research stands as a significant advancement in the understanding and potential treatment of this debilitating eye condition. Karolina’s work was conducted in collaboration with esteemed colleagues, Dr. Ana Belen Iglesias Romero and Dr. Mathieu Quinodoz, from IOB. This project also benefited from the expertise and cooperation of clinicians and researchers from Switzerland, Portugal, and the UK, exemplifying a remarkable international collaborative effort.