A new genetic disease slows down children's brain development. A new genetic disease that causes some children's brains to grow abnormally and postpone intellectual development has been discovered by scientists. The majority of people with the disease, which is still so new that it lacks a name,
The discovery of the variant will help doctors in developing focused treatments to help patients and their families and will pave the way for screening and prenatal diagnosis.
“The main bottleneck in providing diagnoses for these patients is linking a change discovered in their genome firmly to their disease. Making the suspect genetic change in tadpoles allows us to test whether it causes the same illness in humans. Co-author Professor Diana Baralle, Professor of Genomic Medicine and Associate Dean in the Faculty of Medicine at the University of Southampton added: “Discovering these new causes for genetic disorders ends our patients’ diagnostic odyssey and this has been made possible by collaborative interdisciplinary working across universities.”
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