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April 27, 2018 08:30 pm
Original Link: http://rss.slashdot.org/~r/Slashdot/slashdot/~3/t9o_MysIIaY/in-first-doctors-treat-rare-genetic-disorder-with-an-injection-in-utero
In First, Doctors Treat Rare Genetic Disorder With an Injection In Utero
An anonymous reader quotes a report from Ars Technica: Three babies with a rare genetic disorder have been spared the worst effects of their condition thanks to an experimental injection they received in utero, researchers report this week in The New England Journal of Medicine. The success marks the first time a genetic disorder has been partially reversed by such a treatment prior to birth. The in utero injections treated a rare, recessive genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED), which affects the development of skin, hair, nails, and teeth. People with the disorder have sparse body and head hair, dry eyes, mouths, and airways, and few teeth, which are usually pointy. But most dangerously, the condition also disrupts development of sweat glands throughout the body. People with XLHED have fewer sweat glands and/or poorly functioning ones. This leaves individuals vulnerable to high fevers and over-heating (hyperthermia), which can be life-threatening and lead to medical complications. For the new experimental treatment, the researchers realized that it all came down to timing. Humans develop sweat glands much earlier in their development, generally between the 20th and 30th week of pregnancy. To prevent XLHED from wreaking havoc, the researchers needed to deliver the protein prior to birth. After testing the idea for safety and efficacy in mice and monkeys, doctors in Germany got a compassionate-use approval to try it in a 38-year-old pregnant woman. She had a family history of XLHED, a young son with the condition, and was found to be carrying twin boys with it, too. [...] The researchers will track the babies' development to see if the effects are permanent, but data from animals suggests that they will be.Read more of this story at Slashdot.
Original Link: http://rss.slashdot.org/~r/Slashdot/slashdot/~3/t9o_MysIIaY/in-first-doctors-treat-rare-genetic-disorder-with-an-injection-in-utero
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