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The purpose of this research timeline is to highlight the tumultuous yet inspiring history of Cystic Fibrosis disease and treatment to give us a more pragmatic understanding of its current state. Cystic Fibrosis is an autosomal recessive disease, most often caused by a single amino-acid deletion of phenylalanine at position 508 in the nucleotide binding domain, which results in a loss of the cystic fibrosis transmembrane conductance regulator (CFTR). Symptomatology varies considerably but a buildup of mucus in the respiratory tract leading to lung failure, and exocrine pancreatic insufficiency which results in digestive and metabolic dysfunction are commonly, if not ubiquitously present in homozygous CF patients. In 1962, the prognosis of Cystic Fibrosis was grim and had a median survival age of just ten years old. Among the first treatments of this disease was a procedure called ‘postural drainage’ in which children were turned upside down to allow the excessive mucus buildup in their lungs to exit. Now, not only has generalized medical care improved but as with most genetic diseases, a comprehensive understanding of the exact biochemical defect has yielded therapeutics that can address the root issue rather than solely mitigate symptoms – drugs such as ivacaftor and lumacaftor aim to do just that. This timeline serves as an effort to synthesize the discoveries and breakthroughs that have altered CF treatment for the better and looks to the future for what type of life patients affected by this genetic illness might reasonably expect.
Cystic Fibrosis; Genetic Disease; History; Treatment
Combs, Randall; Chan, Che Fung Andy; and Sahagun, Daisy, "The History and Future of Cystic Fibrosis" (2021). Undergraduate Research Symposium Posters. 4.