Jeans for Genes Week 2021: Spotlight on cystic fibrosis


Jeans for Genes is an annual campaign that aims to raise awareness of the challenges faced by people living with a genetic disorder. The campaign encourages children and adults to wear jeans to school and the workplace in exchange for a small donation. The funds raised are distributed as grants to disorder-specific charities and patient groups, to help them continue to deliver inspiring projects and support networks for people affected by genetic disorders in the UK.(1)

There are over 6,000 known genetic disorders affecting approximately 2.4 million people in the UK, and around 30,000 babies and children are diagnosed with a genetic disorder each year. Some disorders are apparent at birth, whereas others only become symptomatic later in life and are diagnosed in childhood and, in some cases, in adulthood.(2)

Here at Porterhouse Medical Group, we work collaboratively with our clients to deliver medical communications of the highest standard across a broad range of therapy areas, including multiple genetic disorders. During Jeans for Genes Week 2021, we take a look at cystic fibrosis, one of the most common single gene disorders in the UK.

Spotlight on cystic fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disorder affecting the lungs and digestive system. There are over 10,600 people living with CF in the UK, and although life expectancy is very much improved compared with 60 years ago, there remains no cure.(3)

The gene mutation in CF causes defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is involved in the movement of salt and water into and out of cells lining the lungs and other organs. As a result, people with CF develop thick, sticky mucus in their lungs, digestive tract and other organs, causing multiple (and often very challenging) symptoms.3 The mucus is difficult to cough out of the lungs, causing breathing problems and creating the perfect environment for pathogens, which can cause severe lung infections. The thickened mucus also interferes with pancreatic enzyme function, meaning that individuals with CF cannot break down food properly, resulting in digestive problems and even malnutrition.(4)

How is cystic fibrosis diagnosed?

In the UK, parents are offered newborn blood spot screening (also known as the heel prick test) for their baby when they are 5 days old. This blood test screens for nine rare but serious diseases, including CF, which, if not treated in the earliest stages, can cause severe disability or even death.
If the screening test is suggestive of CF, the child will need both a sweat test to detect the amount of salt in the sweat (which is abnormally high in CF) and a genetic test to identify the faulty gene. The genetic test can also be used to identify carriers of the gene where the condition runs in the family. One in 25 people in the UK are carriers of the faulty CF gene.(5)

How is cystic fibrosis treated?

Although modern treatment options for CF have improved the life expectancy and quality of life for those affected, the disease continues to require a daily therapy routine for individuals to remain healthy.(6)

Maintaining respiratory health

Airway clearance techniques (ACTs) use percussion (clapping) on the chest wall and vibration to help to loosen the thick, sticky mucus and enable it to be cleared through coughing or huffing. A nebulised bronchodilator is often administered to open the airways prior to use of ACTs, in addition to a mucus thinning agent during the procedure to ensure that maximum benefit is gained. Inhaled antibiotics are administered after ACTs, allowing for deep penetration of the airways to attack bacteria and prevent infection.(7,8)
Postural drainage is also practised daily. This technique involves the patient positioning themselves to use gravity in order to assist with the drainage of secretions. In addition, this helps to increase the air movement or ventilation to different parts of the lungs.
Regular aerobic exercise is recommended to facilitate mucus clearance from the airways and improve overall health and fitness.(7,8)

Maintaining digestive health

It is estimated that 90% of individuals with CF have pancreatic insufficiency, meaning that digestive juices and enzymes are prevented from reaching the stomach because the pancreatic ducts are blocked by thick mucus. A high-calorie, balanced diet is required to maintain a healthy weight, in addition to digestive enzyme replacements and other dietary supplementation (vitamins and minerals).(8)

What are the hopes for the future?

After years of treatment options restricted to symptom relief and prevention of end-organ damage, CFTR modulator therapies have been developed to address the underlying cause of CF. These molecules have been designed to work on distinct parts of the defective CFTR protein, thus improving chloride flow and lessening the severity of symptoms.(9,10) Earlier this year, the Medicines and Healthcare products Regulatory Agency (MHRA) approved four CFTR modulator therapies for patients with specific mutation types in the UK.(11)

As with many genetic diseases, the ultimate hope rests with gene therapy. Researchers have identified more than 1,700 mutations in the CFTR gene that can cause CF, so many patients are excluded from treatment with CFTR modulators. As gene therapy replaces the defective CFTR gene with a new, correct version, it will potentially have a far greater scope of eligibility, working regardless of mutation.(12) Studies are progressing in this area. Programmes developing potential inhaled therapy using adeno-associated viruses to deliver the normal CFTR gene to the lungs and other studies aiming to deliver normal CFTR messenger RNA to the lungs are among several in the preclinical stage.(13)

The past decade has brought huge breakthroughs in the treatment of CF. CFTR modulator therapies have revolutionised the therapeutic landscape, considerably improving the prognosis for many patients.(14) There is now a very real feeling of optimism that individuals with CF can have hope for a healthier future.


1. Jeans for Genes. Who we are. Available at: Accessed September 2021.
2. Gene People. About Gene People UK. Available at: Accessed September 2021.
3. Cystic Fibrosis Trust. What is cystic fibrosis? Available at: Accessed September 2021.
4. National Health Service. Overview: Cystic fibrosis. Available at: Accessed September 2021.
5. Cystic Fibrosis Trust. How is cystic fibrosis diagnosed? Available at: Accessed September 2021.
6. Cystic Fibrosis Foundation. Treatments and therapies. Available at: Accessed September 2021.
7. Cystic Fibrosis Foundation. Airway clearance techniques (ACTs). Available at: Accessed September 2021.
8. National Health Service. Treatment: Cystic fibrosis. Available at: Accessed September 2021.
9. Cystic Fibrosis Foundation. CFTR modulator therapies. Available at: Accessed September 2021.
10. CFTR modulators for cystic fibrosis. Available at: Accessed September 2021.
11. National Health Service. Commissioning statement (CFTR modulating therapies). Available at: Accessed September 2021.
12. Cystic Fibrosis News Today. SPIRO-2101. Available at: Accessed September 2021.
13. Cystic Fibrosis Foundation. Drug development pipeline. Available at: Accessed September 2021.
14. Bardin E, Pastor A, Semeraro M et al. Modulators of CFTR. Updates on clinical development and future directions. Eur J Med Chem 2021; 213: 113195.

Author: Suzanne Brunt BM | Medical Writer | Porterhouse Medical