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Researchers Identify New Genetic Disease That Interferes with Brain Development

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators discovered a new rare genetic disease that interferes with brain development. The researchers published findings in Human Genetics and Genomics Advances that identify the faulty mutated gene. By exploring the biochemical consequences of the mutation, the investigators also showed that this typo in the genetic code interferes with normal cellular function.

April 13, 2026


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