This workshop will deal with the possibility to use a personalized approach for the rescue of CFTR function in cystic fibrosis patients. In particular, many patients carry a rare mutation on at least one allele of CFTR gene. The defect associated with each mutation and its responsivity to specific treatments needs to be clarified. The increasing availability of pharmacological tools (e.g. correctors and potentiators) allows to test each of them in vitro in order to define the most effective treatment.
Explain the molecular mechanisms through which different cystic fibrosis mutations cause loss of function of CFTR protein.
Define the strategies that are most adequate to rescue the specific defects associated with each CFTR mutation.
Describe the cell models that are useful to test the responsivity to specific treatments targeting CFTR protein or gene.