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Study uses brain organoids to reveal how autism-linked genetic mutation disrupts neural development

In a study published May 02, 2022 in Nature Communications, scientists at University of California San Diego School of Medicine used human brain organoids to reveal how a genetic mutation associated with a profound form of autism disrupts neural development.

Brain organoids provide a valuable model to study autism

Variations in the 16p11.2 region of the genome are associated with autism spectrum disorder. While people with genetic deletions in this region have larger heads (macrocephaly) and people with genetic duplications have smaller heads (microcephaly), both variation types affect brain development and function.

Brain Organoids Mimic Head Size Changes Associated with Type of Autism

Brain Organoids Mimic Head Size Changes Associated with Type of Autism
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How a single gene alteration may have separated modern humans from predecessors

 E-Mail IMAGE: Neanderthal-ized brain organoids (left) look very different than modern human brain organoids (right) they have a distinctly different shape, and differ in the way their cells proliferate and how. view more  Credit: UC San Diego Health Sciences As a professor of pediatrics and cellular and molecular medicine at University of California San Diego School of Medicine, Alysson R. Muotri, PhD, has long studied how the brain develops and what goes wrong in neurological disorders. For almost as long, he has also been curious about the evolution of the human brain what changed that makes us so different from preceding Neanderthals and Denisovans, our closest evolutionary relatives, now extinct?

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