Genetic Mutations in Cystic Fibrosis

Summary

This project explores the genetic basis of Cystic Fibrosis (CF), a life-threatening inherited disorder caused by mutations in the CFTR gene. This gene mutation affects the transport of chloride ions across cell membranes, leading to the production of thick, sticky mucus that primarily impacts the respiratory, digestive, and reproductive systems. The project details the different classes of CFTR mutations, each with varying effects on the production and function of the CFTR protein. These mutations result in a range of symptoms, including severe respiratory infections, digestive issues, and infertility, significantly reducing life expectancy. Diagnosis of CF is typically conducted through newborn screening, sweat chloride tests, and genetic carrier testing.

Video Presentation

Impact Statement

Hi! I'm Ishan, In this summer I got impacted in many ways throughout the project and lectures. The certain qualities of the program that I enjoyed were that of the way of the teaching as the professors made hard topics in biology more digestible, and the thorough instructions and details helped me further excel in my project. The disease that I tackled for my project was Cystic Fibrosis. Specifically the genetic mutations that are in Cystic Fibrosis. The project itself is in a poster and report which both refer to the multiple mutations that cause Cystic Fibrosis and the therapy treatment. Throughout the entire process of the project I learnt research skills and different sites that I can use in my future endeavor relating to medical biology.

Report White Paper

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_By: Ishan Iyer_

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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