New Genetic Link Found to Severe Respiratory Disorder 11 June
Researchers have identified a new genetic disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which leads to severe respiratory distress in children. This discovery was facilitated by the Undiagnosed Diseases Network and helps distinguish this condition from previously known neurological symptoms associated with the same gene.
Why it matters
Identifying the genetic cause of rare lung diseases allows for better clinical management and potential life-saving interventions for affected families.
A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Texas Children's, Baylor College of Medicine and collaborating institutions in Asia and Europe explain how this disorder presented in five individuals from four unrelated families.
The article is a straightforward report on medical research findings without political or social commentary.
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