Can we treat genetic diseases in utero?

October 14, 2015

Now that screening for genetic disorders before birth has become not only possible but common, science is looking at how to target specific diseases in order to mitigate their effects…before a child is even born.

This week researchers from the Karolinska Institutet in Sweden announced they will be coordinating the first ever comparison study of in utero stem cell infusion to treat a severe genetic condition, osteogenesis imperefecta, or brittle bone disease. Half the study subjects will be injected with stem cells in utero between 20-34 weeks. The other half will receive the stem cells at birth. Thereafter, specific groups will receive new treatments every 6 months.

The stem cells developed to treat osteogenesis imperfecta work by producing a type of bone-strengthening collagen. These stem cells have been tested in living children and mice, but researchers predict the therapy could be even more effective if given earlier, before life outside the womb begins.

Osteogenesis imperfecta affects around one in every 25,000 births on average and is thought to affect at least 50,000 people in the U.S. alone. This incurable disease differs in severity, with some cases being fatal before babies are even a few days old. Even those who survive face up to 15 bone fractures a year, brittle teeth, impaired hearing and growth problems.

Although fetal stem cell transplants have been carried out in animal and some humans on a small scale, they have not generally been effective in humans as a result of the mother’s immune system killing the cells before they can reach the fetus. It remains to be seen whether this issue will affect the Swedish study. However, if this approach is successful, stem cell transplants in fetuses could mean a significant reduction in the physical and economic cost of genetic defects.

For more on osteogenesis imperfecta follow this link. The BBC has also written an article on what they know about the recently announced study and features an interview with a sufferer of osteogenesis imperefecta.

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