Targeting the Root Cause of Cystic Fibrosis Protein Dysfunction with Dr. Charlotte McKee Sionna

Dr. Charlotte McKee, Chief Medical Officer at Sionna, describes the nature of cystic fibrosis (CF, a genetic disease caused by a mutation in the single CFTR gene. While current CFTR modulator therapies do not address the most common mutation, Sionna's novel oral medicine is designed to target the previously undruggable NBDI domain of the CFTR protein. This new therapy aims to lead to better lung function and prevent the accumulation of permanent damage to other organs like the pancreas, gut, and liver.  Charlotte explains, "Cystic fibrosis is a genetic disease. The gene was actually discovered in 1989 for cystic fibrosis. It's considered a rare disease, but it's a relatively large rare disease. And one of those rare diseases that is potentially fatal, as you mentioned, it's thought of as a lung disease. And most patients, if their life is shortened, it's typically because of lung disease, because the lungs can be very severely affected. But the protein is caused by a genetic mutation in a gene called CFTR, and the protein is made from that gene. The CFTR protein is present on every epithelial cell of the body."   "Sionna is focused on a novel target in the CFTR protein. So you may know that, actually, there are approved medicines that have been developed over the last couple of decades that improve the function of the CFTR protein. And they've really advanced the clinical field, and there have been tremendous advances for people with CF. But this protein, this CFTR protein that goes wrong in CF, is a big, complicated, multi-part channel."   "Another unusual thing about CF is that there's one mutation that's so common around the world, and the part of CFTR that goes most wrong with F508del. This mutation is in a part of CFTR that was previously considered undruggable. It's that part that is called NBD1, and Sionna has been working for over a decade and a half of research, actually starting with Genzyme and then continuing through the company, Sanofi, has actually figured out how to develop potential medicines against this part of the CFTR protein that goes most wrong. And so we are working on these, they're called modulators, CFTR modulators, or we are working on NBD1-focused potential medicines that can directly bind to and stabilize this specific part of the CFTR protein."   #Sionna #CysticFibrosis #NBD1Stabilizers #CFTRModulators #RareDisease #Biotechnology #MedicalInnovation #PrecisionMedicine #GeneticDisease #PulmonaryHealth sionnatx.com Download the transcript here