Doctors Successfully Treat Rare Genetic Disorder in Utero

The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.

Written byJim Daley
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Researchers have treated patients with a developmental disorder before they were born, according to a study published Wednesday (April 25) in the New England Journal of Medicine.

“It’s quite a remarkable advance . . . to be able to really alter the outcomes significantly for these affected fetuses,” Maisa Feghali, an assistant professor of maternal fetal medicine at the University of Pittsburgh who was not involved in the study, tells STAT. “There are a number of conditions for which we would seek treatment in utero, but traditionally these have been non-genetic, non-inherited conditions.”

The disorder, X-linked hypohidrotic ectodermal dysplasia (XLHED), is extremely rare, affecting one in 17,000 people worldwide, according to the National Institutes of Health. Patients with the disease cannot produce the protein ectodysplasin ...

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