2020 Undergraduate Research Showcase


Cystic Fibrosis

Document Type

Student Presentation

Presentation Date


Faculty Sponsor

Dr. Julia Oxford


Cystic fibrosis was first recognized as a new disease in 1938 when autopsies of children who died from malnourishment revealed similar findings. Currently, there are approximately 30,000 people living in the U.S. who are affected by this rare genetic disease. Cystic fibrosis is a congenital progressive disorder caused by a mutation in the gene encoding cystic fibrosis transmembrane conductance regulator (CTFR). Mutations in the CTFR gene cause the mucus in the body to become thick and glue-like, blocking ducts and tubes distributed within the body. Buildup in mucus can cause a multitude of problems, eventually leading to death. Treatment of an individual with cystic fibrosis depends on the severity of symptoms. Antibiotics can prevent and treat chest infections. Other medications can also treat thick mucus in the lungs by thinning and hydrating the mucus, allowing it to clear and also widening the airways to make breathing easier. Lung transplant may be needed in the case of lung damage. The FDA recently approved Trikafta, the first triple combination therapy available to treat CF. Here, we explore the manner in which this trifecta of drugs helps the protein encoded by the CTFR gene mutation function more effectively.

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