Cystic Fibrosis Cure On The Horizon After Scientists Correct Genetic Mutation



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A cure for cystic fibrosis is on the horizon after scientists corrected the genetic mutation that causes the disease in human cells.

About one in 2,500 babies are born with the disease, which causes thick, sticky mucus to build up in the body, blocking the lungs and digestive organs. It is caused by a defective piece of DNA that does not produce enough water to thin the mucus.

Today, scientists at the Hubrecht Institute in the Netherlands have shown that a healthy piece of DNA can be swapped out for the faulty code, allowing cells to function normally.

In mini-intestinal organs grown from human stem cells – known as organoids – the team showed that inserting the new DNA into the defective tissue caused the cells to swell with excess fluid.

“The treated organoids demonstrated the same response as healthy organoids – they became swollen,” said Dr. Maarten Geurts, lead author of the study. “This provided us with proof that our technique worked and replaced mutated DNA.

“We have, for the first time, shown that this technique really works and can be safely applied in human stem cells to correct cystic fibrosis.”

Cystic fibrosis is one of the most common genetic diseases in the world and means that patients need to take a range of medications and have regular treatments and airway clearance exercises.

About 10,600 people in the UK suffer from the disease. According to the Cystic Fibrosis Trust, one in 25 people carry the defective gene, usually without knowing it, which means two million people in Britain have the mutation.

If two carriers have a child, there is a one in four chance of developing the disease, which can lead to symptoms such as a persistent cough, wheezing, difficulty breathing, repeated lung infections, and reduced life expectancy.

For the new research, the team used a technique called Prime Editing, which is a variation of the Crispr genetic cutting tool.

The new technique inserts genetic material without inadvertently causing damage elsewhere, so it is less likely to bring unexpected problems. It has been tested on mini-organs cultured from stem cells of patients with cystic fibrosis and compared to those cultured from healthy cell lines.

The mutations that cause cystic fibrosis are found in a channel called CFTR (cystic fibrosis transmembrane conductance regulator), which is found in cells of various organs, including the lungs.

Due to the mutations, the duct does not function properly, leaving the mucus layer that covers the cells with too little water and meaning the mucus becomes sticky.

The technique has yet to be adapted for safe use in humans, but the researchers said it was a “big step forward” in applying genetic editing techniques in the clinic to cure them. devastating hereditary diseases.

“This will hopefully allow us to cure or even prevent genetic diseases in the future,” said Dr Geurts. “New variants of Crispr, such as Prime Editing, can safely correct mutations without causing damage to other regions of DNA.”

The study was published in Life Science Alliance.

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