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Aurora magazine

In utero gene therapy against Gaucher disease

A genetic therapy administered in utero to defeat a deadly disease. This is suggested by a study conducted for now only on animal models. If the results were positive, there would probably be a way to minimize the consequences of certain genetic diseases. Although the US Food and Drug Administration has approved the first gene therapy, it will take some time before this treatment becomes effective.

Dr. Simon Waddington's team used prenatal gene therapy against Gaucher disease. The disease is caused by an abnormality in the GBA gene, which prevents lipid disposal. These accumulate in the brain cells and in the rest of the body, preventing its functioning. The disease causes irreparable brain damage and leads to death.

In some forms of the disease, it is possible to introduce the missing enzyme into the body and destroy part of the accumulations. Unfortunately, the enzyme responsible for the process does not cross the barriers of the brain, so it can not act on that area. For this reason, for the moment there is no real therapy against the disease, which often kills before the age of two. Gaucher's study represents hope.

The researchers used a virus to carry healthy GBA copies into the brains of developing fetuses. A normal injection is enough for the virus to move from the circulatory system to the central nervous system. From here it disperses throughout the brain, arriving there where the enzyme alone fails.

The study was conducted on sick guinea pigs of a corresponding Gaucher disease. Untreated guinea pigs live for about 15 days after giving birth. Those treated, however, survived for at least 18 weeks and were able to move normally.