What is cystic fibrosis?

Cystic fibrosis is a chronic, progressive disease that affects the production of mucus, sweat, and digestive fluids. In people with CF, a gene mutation causes these fluids to become thick and sticky, which clogs airways and ducts, leading to infections and organ damage — especially in the lungs and pancreas.

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What causes cystic fibrosis?

The cause of cystic fibrosis disease is a mutation in the CFTR gene (cystic fibrosis transmembrane conductance regulator). This gene produces a protein that regulates the flow of salt and water in and out of cells. When this protein doesn't work properly, it leads to the build-up of thick mucus in vital organs.

There are over 2,000 known mutations of the CFTR gene, but the most common is called ΔF508, present in about 70% of cases worldwide.

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How is cystic fibrosis inherited?

Cystic fibrosis follows an autosomal recessive inheritance pattern. This means:

• A child must inherit two faulty CFTR genes (one from each parent) to have the disease.
• A person with one mutated gene and one normal gene is called a carrier — they don’t have symptoms but can pass the mutation on.

If two carriers have a child:

• There’s a 25% chance the child will have CF.
• A 50% chance the child will be a carrier.
• A 25% chance the child will not carry the gene at all.

This is why carrier screening and genetic counseling are crucial for families with a history of CF.

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Who is affected?

Cystic fibrosis affects about 1 in 2,500–3,500 newborns in Europe and North America. It is less common in people of African and Asian descent but can occur in any ethnicity.

Thanks to newborn screening, most cases are diagnosed shortly after birth. In rarer cases, mild forms may go undiagnosed until adolescence or adulthood.

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How does CF affect the body?

1. Lungs
Sticky mucus traps bacteria, leading to chronic lung infections, inflammation, coughing, and progressive lung damage.

2. Digestive system
Thick mucus blocks pancreatic enzymes from reaching the intestines, making it difficult to digest food and absorb nutrients.

3. Liver
Bile duct blockage may cause liver disease.

4. Reproductive system
Most men with CF are infertile due to congenital absence of the vas deferens. Women may have reduced fertility but can conceive.

5. Sweat glands
Excess salt loss through sweat can lead to dehydration and imbalanced electrolytes.

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Symptoms of cystic fibrosis

• Persistent cough with thick mucus
• Frequent lung infections (e.g., pneumonia)
• Wheezing or shortness of breath
• Poor growth despite normal appetite
• Difficulty gaining weight
• Greasy, bulky stools
• Salty-tasting skin
• Nasal polyps or sinus infections

The severity of symptoms can vary widely, even among individuals with the same mutation.

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Diagnosing cystic fibrosis

CF is typically diagnosed through:

• Newborn screening – A blood test that looks for elevated levels of immunoreactive trypsinogen (IRT).
• Sweat test – Measures the salt content in sweat; high levels are a hallmark of CF.
• Genetic testing – Confirms the presence of CFTR mutations.

Early diagnosis enables early intervention, which improves long-term outcomes.

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Current treatment options

There is no cure for CF, but treatment has advanced dramatically. Therapies are tailored to the individual and often include:

• Airway clearance techniques – Including chest physiotherapy and mechanical devices to loosen mucus
• Inhaled medications – Bronchodilators, antibiotics, and mucus thinners
• CFTR modulators – Drugs like Trikafta (elexacaftor/tezacaftor/ivacaftor) target the defective protein itself
• Pancreatic enzyme supplements – To aid digestion
• High-calorie, high-fat diets – To support growth and energy needs
• Exercise and physical therapy – To maintain lung function

Lung transplants may be considered in advanced cases.

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Living with cystic fibrosis

Many people with CF now live into adulthood and beyond, thanks to medical advances and proactive care. Still, the disease places a significant burden on daily life — from time-consuming treatment routines to frequent medical appointments and infections.

Support from specialized CF centers, community networks, and mental health professionals is essential.

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Looking toward the future

Gene therapy and mRNA-based treatments are being explored to correct the underlying genetic defect, offering hope for a true cure in the coming decades. Clinical trials are ongoing, and the field is advancing rapidly.

For families affected by CF, staying informed and connected to new research is key to preparing for the future.

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The question of what’s possible

Despite progress, CF remains life-limiting for many — especially in advanced stages. This has led some to consider emerging technologies like human cryopreservation. At Tomorrow.bio, we offer this option for individuals who wish to be preserved after legal death, with the hope that future medicine may one day reverse or cure conditions like CF.

Cryopreservation is not a treatment or a guarantee — but it is a way to preserve the chance for future care, when today’s science can go no further.

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About Tomorrow.bio

At Tomorrow.bio, we are dedicated to advancing the science of cryopreservation with the goal of giving people a second chance at life. As Europe’s leading human cryopreservation provider, we focus on rapid, high-quality standby, stabilization, and storage of terminal patients — preserving them until future medical technologies may allow revival and treatment.

Our mission is to make human cryopreservation a reliable and accessible option for everyone. We believe that no life should end because current medical capabilities fall short.

Our vision is a future where death is optional — where people have the freedom to choose long-term preservation in the face of terminal illness or fatal injury, and to awaken when medicine has caught up.

📧 Contact us at: hello@tomorrow.bio
🌐 Visit our website: www.tomorrow.bio
🤝 Schedule a call with our team: Book a call

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