Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic condition that often leads to kidney failure. It affects a significant percentage of people who require dialysis or a kidney transplant worldwide. In fact, it's one of the top causes of severe kidney disease. ADPKD is caused by specific genetic changes, with one gene called PKD1 being responsible for most cases. Some of these genetic changes can result in a kind of error called "nonsense mutations," which make the disease more severe by producing an incomplete version of the protein generated by the gene. These mutations mess up the structure and function of tiny hair-like structures on kidney cells called cilia, which are important for kidney health.

Scientists are exploring new drugs called "stop codon read-through compounds." These drugs have the potential to fix the genetic errors causing ADPKD and similar diseases. When these drugs are used, they can make the cells "ignore" the genetic error and produce a complete and working protein instead of a broken one. These drugs are already being tested in clinical trials for other diseases and seem to be safe and effective.

The goal of this project is to study kidney cells from ADPKD patients who have these nonsense mutations in the PKD1 gene. We will isolate and grow these cells in the lab and examine their cilia before and after treatment with a new stop codon read-through drug. This will help us understand how well the drug works and could be a crucial step in developing a treatment for ADPKD patients with these specific genetic errors.