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Feb 23, 2024

New insight into gene uncovers its link to incurable birth defect

Posted by in categories: genetics, neuroscience

Researchers have unraveled how mutations in a gene can lead to an incurable neurodevelopmental disorder that causes abnormal brain development in newborns and infants.

The WEHI study is the first to prove that a protein called Trabid helps control , and that mutations to this protein can lead to —a condition where a baby’s brain is smaller than expected.

It’s hoped the milestone findings will provide a deeper understanding into the protein’s impact on and lead to treatments that can slow or stop the development of microcephaly and potentially other neurological disorders.

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