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The Science Journal of the Lander College of Arts and Sciences

Abstract

This paper discusses the current and prospective treatment options for the fatal genetic disease cystic fibrosis. Cystic fibrosis (CF) is a rare recessive genetic disorder that is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which codes for a protein that is on the surface of a cell. This protein allows for the flow of chloride, bicarbonate, and sodium ions to pass through the cell wall, bringing water with it. When this protein doesn’t work, the lack of ions and water in extracellular fluid becomes too thick, causing a multitude of problems. The most common area that this affects is the mucus in the lungs, when it gets too viscous, a person isn’t able to expel the mucus and whatever bacteria may be in it, ultimately leading to death. Every year, about a thousand people are born with this rare recessive genetic disease. Although the mortality rate is going down, there are still approximately 530 people per year who die in the US due to CF (Singh et al. 2023). Many treatments for CF aim to prolong life while still having the disease, such as oxygen treatments and oral medications. They have their limitations to which patients can take it and only treat the symptoms. The objective of this paper is to analyze the research being done to eradicate the disease.

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