Cystic Fibrosis (CF) is a hereditary disease caused by a faulty gene in a person’s genetic make-up. It is a common disease and affects around 8500 people in the UK. The disease is caused by a defective CFTR gene and this gene is responsible for transporting chloride, salt and water around the body.
When these things are not successfully transported around the body because of the faulty gene it causes a build up of sticky mucus in the internal organs that can cause infections and inflammation that make it difficult for the person to breathe or digest food. The disease dramatically inhibits a person’s life expectancy and the average CF sufferer today has a life expectancy of around 38.
The identification of the specific gene that causes CF in 1989 opened new doors for finding a cure for the destructive disease. Traditional treatments for CF include antibiotics, physiotherapy and pancreatic supplements, but whilst these treatments can be highly effective in treating the symptoms of CF and increasing the life expectancy of a sufferer, they only ever ease or prevent the onset of symptoms and do not provide a cure for the disease. These treatments are also time consuming, particularly in the case of physiotherapy, and are therefore inconvenient for the sufferer in terms of living a normal life.
Once the defective CF gene had been identified, scientists could start looking at the possibility of gene therapy in treating the disease. If a normal copy of the faulty gene could be released into the body of a sufferer then it is surely not incomprehensible that the patient could be cured. The efficient transport of salts and water around the body is all that is needed to stop the build up of problem-causing mucus in the lungs and around the body.
Gene therapy research focuses mainly on the lungs and getting the healthy gene into lung cells. This is due to the fact that most cystic fibrosis deaths are caused by respiratory failure. Current gene therapy treatment for CF involves inhaling a nasal spray that delivers healthy DNA to the lungs; the purpose of this is to substitute the defective gene with a fully functioning copy.
The potential of gene therapy for cystic fibrosis sufferers
As you would expect there are major safety issues with such a complex and intrusive procedure and the capabilities of such treatment methods for CF are still very much in the research phase but the outlook for the future is most definitely positive. UK researchers have already proven the effectiveness of gene therapy for CF in mice and in the nose and lungs of human CF sufferers. The clinical trials already carried out have demonstrated the potential of gene therapy for CF sufferers and the next step is to develop a safe, effective and efficient way of getting the healthy copy of a gene into the body of a CF sufferer with the ultimate aim of curing cystic fibrosis.
The UK CF Gene Therapy Consortium is a leader in developing this treatment; having already developed a leading gene therapy product over a number of years, their hope for the future is to refine the product, making it easier and safer to use and ultimately improving its effectiveness with a view to curing CF sufferers of the disease for life and at the very least increasing the current life expectancy by easing its progress.
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