Dr Katarzyna Szymanska

My primary research interest lies in elucidating the molecular mechanisms underlying the development of pathological phenotypes in ciliopathies—rare congenital disorders that affect multiple organs, including the brain, kidney, eye, and liver. To investigate these mechanisms, I employ CRISPR-Cas9 genome editing to introduce patient-specific variants into human induced pluripotent stem cells (iPSCs). These genetically modified iPSCs are then differentiated into kidney cells and organoids.

The resulting kidney organoids are cultured under conditions that promote cyst formation, effectively recapitulating the disease phenotype observed in ciliopathy patients. This organoid-based model provides a physiologically relevant platform for studying disease progression and serves as a powerful tool for preclinical drug screening. Using this system, we aim to identify and evaluate novel therapeutic compounds for the treatment of cystic kidney disease.