Gene therapy: no longer science fiction

Twenty years ago medical students across the world daydreamed about gene therapy. Half based on the fantasy of a super advanced medical world and half based on hope, their speculations recognised the possibilities that gene therapy held, but concluded that gene therapy was very much rooted in science fiction. However, in just two short decades, this is no longer the case. Gene therapy is now a branch of scientific medicine that is developing at an extraordinary pace and leading to discoveries into the treatment and cure of many genetic diseases.

Gene therapy aims to correct mutated genes to cure genetic conditions or disease. Genes, which are small sections of DNA, are found within every cell of our bodies. Genes carry genetic information and instructions to make proteins which build and enable our bodies to function. Genetic diseases occur when a crucial piece or section of DNA is substituted, deleted or duplicated. These changes are called genetic mutations. Some mutations may be serious enough to cause genetic diseases or conditions. Rett syndrome is an example of such a condition.

The dawn of a new age

Seven years ago the development of CRISPR, a revolutionary gene-editing tool which allows scientists to make changes to DNA, suddenly made the fantasy of gene editing a reality. CRISPR can be used to find the mutated gene within a cell, then cut it and repair the break with a working copy of the mutated gene. Suddenly there was the breakthrough that people could previously only dream of: a means of correcting mutations that cause genetic diseases. However, there were problems with this approach. The cuts could occur in the wrong place and the repairs were not always perfect. The race was on to refine the technology to make it more accurate: a race which has turned into a sprint!

Only last month the BBC reported on prime editing, a new gene therapy tool that could correct 89% of genetic defects by “accurately re-writing the genetic code”. Prime editing, while still in its infancy, has been used to precisely delete or insert sections of DNA as well as correct mutations. Prime editing has the ability to find the specific piece of DNA that needs correcting and then correct the mutated gene.

While scientists stress that more research is needed before the technology can be used to clinically treat patients, prime editing is another example of how gene therapy is moving at an incredible pace, giving hope to thousands of people that one day they will be cured of the life-changing effects their genetic conditions have on them.

It is this hope that drives us at Eva’s Friends to support another thread of gene therapy research at the University of Edinburgh: research which is developing Spliceosome-Mediated RNA Trans-Splicing (SMaRT) technology. This technology has the potential to not only cut out and repair the mutated gene but also ensure that no harmful changes are made to other parts of the DNA.

For a parent of a child with two genetic mutations, the development of gene therapy is not only exciting but also gives me and my family hope: hope that one day my daughter, and thousands of other children will be freed from cruel and devastating rare neurological conditions which affect every minute of their every day. With more funding we can help revolutionise the medical world and change these children’s lives forever. A cure is coming, and that’s no longer science fiction.

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