Cystic Fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In this disease, among other consequences. The lung dysfunction remains the major cause of morbidity and mortality. The absence or alteration of CFTR leads to altered epithelial salt and water transport, impaired mucociliary clearance, chronic infection, exuberant inflammation and tissue damage.
Although CF is recognized as a single gene disorder, considerable phenotypical diversity exists among patients with the same CFTR mutations. Besides environmental factors, additional genetic modifiers contribute to this variability. FAM13A has been identified as one of the candidate genes.
We are currently studying the the role of FAM13A in CF and notably in pertinent mouse models. This project represents a challenging and a tremendous opportunity in the global comprehension of CF and will help to translate these new genetic insights into better strategies for prevention and treatment of CF patients.