Air, Food, and Health: Cystic Fibrosis Awareness Month
May is Cystic Fibrosis Awareness Month — a time to raise awareness about one of the most common life-threatening genetic disorders, and the role that genetics plays in its diagnosis, management, and prevention.
What Is Cystic Fibrosis?
Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. It affects the cells that produce mucus, sweat, and digestive juices — causing these fluids to become thick and sticky, blocking tubes, ducts, and passageways in the lungs, pancreas, and other organs.
The Genetics of Cystic Fibrosis
CF is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene. It is an autosomal recessive condition — meaning a person must inherit two defective copies of the CFTR gene (one from each parent) to develop CF. People who carry only one defective copy are called “carriers” — they do not have CF themselves but can pass the mutation to their children.
There are more than 2,000 known mutations in the CFTR gene. The most common mutation, F508del, accounts for approximately 70% of CF cases worldwide. Carrier frequency varies by population — in India, CF is less common than in Western populations but is increasingly recognised as a significant cause of chronic lung disease in children.
Air, Food, and CF Management
Airway clearance — daily physiotherapy techniques to loosen and clear mucus from the lungs are a cornerstone of CF management
Nutrition — people with CF often have difficulty absorbing nutrients due to pancreatic involvement; high-calorie, high-fat diets and enzyme supplements are typically required
CFTR modulators — a new class of drugs that target the underlying CFTR protein defect; highly effective for people with specific CFTR mutations
Carrier Screening
Carrier screening for CF is recommended for couples planning a pregnancy, particularly those with a family history of CF or from populations with higher carrier frequency. Knowing your carrier status allows you to make informed reproductive decisions and access genetic counselling.
Carrier Screening and Genetic Counselling
MapmyGenome’s carrier screening panel covers 171 genetic conditions including cystic fibrosis — helping couples understand their risk of having a child with a genetic disorder. Includes certified genetic counselling.
