Translational Research in Cystic Fibrosis: From Bench to Beside

Abstract

Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development and basic science research have allowed great advances in the diagnosis and treatment of cystic fibrosis. The great search for treatments that acted at the genetic level, despite not having found a cure for this disease, culminated in the creation of CFTR modulators, highly effective medications for certain groups of patients. However, there are still many obstacles behind the treatment of the disease to be discussed, given the wide variety of mutations and phenotypes involved and the difficulty of access that permeate these new therapies around the world.

Keywords: CFTR modulators; cystic fibrosis; quality of life; translational research; treatment.

Figure 1

Improvements in cystic fibrosis survival according with the advances CF care. Advances in CF care were resulted from increasing knowledge in basic sciences as genomics and proteomics. The successive advances in the understanding of the pathophysiology, symptoms and treatment achieved by basic research have made the care of patients with cystic fibrosis highly complex, involving protocols for screening, diagnosis and treatment. This has enabled significant gains in life expectancy, especially in recent decades. However, there are still many issues to be resolved in CF, which is why a great development of research with clinical repercussion is expected in the coming years.