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Aurora magazine

New gene therapy for an intractable disease?

Researchers from the University of Hokkaido have identified a possible therapy for Loricrin keratoderma. This is an incurable skin disease that occurs from birth. For the moment there are only symptomatic treatments, but Japanese researchers have made a discovery that could change things.

The team observed patients' skin for long periods. It emerged that in some places the patients' skin was healthy. The researchers examined the DNA extracted from these cells, looking for mutations that cause the disease. They discovered that in those areas the previously ill skin had returned to normal, the mutations had disappeared. All thanks to a somatic recombination, or natural exchanges of pieces of DNA.

Healthy areas had been present for several years, so the process seems permanent. It is likely that natural genetic editing has affected stem cells, which have therefore produced healthy cells. Now we need to understand how the process occurred, so that it can be reproduced in the laboratory over the entire skin. The researchers also found that cells with the correct DNA reproduce faster. As a result, they are more likely to produce so many healthy new cells that they create visible patches. This gives researchers new hope: if it were possible to induce recombination with drugs, there would be a new treatment against Loricrin keratoderma.