Overview

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, and other organs. It is a life-threatening condition that primarily affects the respiratory and digestive systems, leading to progressive lung damage, difficulty breathing, and malnutrition. CF is a relatively rare disease, with approximately 30,000 people living with the condition in the United States and about 70,000 people worldwide. The first recorded case of cystic fibrosis was in 1938, when Dr. Dorothy Anderson identified it as a distinct medical condition. However, it was not until the 1950s that researchers began to understand the cause of CF - a faulty gene known as the cystic fibrosis transmembrane conductance regulator (CFTR). This gene is responsible for creating a protein that regulates the movement of salt and water in and out of cells. In a person with CF, this protein does not function properly, causing a build-up of thick, sticky mucus in the lungs and other organs. The mucus traps bacteria and other foreign particles, leading to frequent respiratory infections and difficulty breathing. In the pancreas, the mucus obstructs the normal function of the organ, preventing the release of enzymes needed for proper digestion and absorption of nutrients. This results in malnutrition and growth issues in individuals with CF. CF is an autosomal recessive disorder, meaning that both parents must carry a mutated copy of the CFTR gene for a child to inherit the condition. If both parents are carriers, there is a 25% chance of having a child with CF.

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