Author(s) :

Aarav Patel.

Volume/Issue :

Abstract :

First discovered in 1938, cystic fibrosis was determined to be a disease affecting the pancreas, gastrointestinal tract, reproductive organs, and lungs. It was later discovered to be a recessively inherited autosomal disease characterized by mutations in the cystic fibrosis transmembrane conductance regulator gene which results in dysfunctional ion transport proteins in epithelial cells. Impaired ion transport leads to viscous mucus, which can cause pulmonary infection, pancreatitis, malabsorption, and infertility. Cystic fibrosis can be diagnosed during newborn screenings either by the sweat chloride tests or trypsinogen tests. It is estimated that 105,000 people worldwide have cystic fibrosis, and Caucasian people are known to have the highest prevalence. Treatments do exist to lessen the symptoms of cystic fibrosis, but they do not ensure a lifetime cure. Current research is focused on developing modern types of treatments for cystic fibrosis, such as gene editing therapies. Early results from studies with mRNA therapies and CRISPR/Cas9 technology show promising results for future treatment. Potentially curative therapies like CRISPR could lead to improvement in the quality of life of cystic fibrosis patients and an increase in life expectancy.