Gene therapy in action! Recently I posted about what gene therapy is and how it can be useful in alleviating genetic diseases. Today I want to talk about a really cool example of how modifying a gene can possibly reduce the symptoms of severe dystrophic epidermolysis bullosa (DEB).
What is DEB? It is a genetic disease that affects the collagen proteins involved in the connective tissue between the layers of skin. Harmful mutations in this gene (“COL7A1”) can lead to painful chronic blistering and scarring all over the body. DEB can be inherited in a recessive or a dominant pattern, depending on the type of mutation. Current treatments focus on symptom relief and preventing blisters.
An exciting treatment approach is gene editing that has so far been successful at editing skin cells’ DNA. Scientists in Austria are looking at using CRISPR technology to edit the mutation in the skin cell DNA to repair the gene to restore normal function. They tested this by taking some skin cells from a patient who had severe recessive DEB with a particular type of mutation. They then used CRISPR to target and cut out the mutation and then to insert the correct DNA sequence to replace the mutated sequence. This technique restored the normal skin cell function in over 70% of the cells tested. This was done “ex vivo,” meaning the cells were not inside the person during testing.
This is a fantastic advancement in curing or significantly improving a person’s quality of life if they have DEB. But unfortunately, there is still a long way to go before this is taken to clinical trials. Also, this latest experiment focused on one specific type of mutation, and so will not help everyone with DEB. There is still a lot to be gained from this for all genetic disease treatment research, and it is exciting to think of a day when treatment is available for all genetic diseases.
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