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Pitt-Hopkins syndrome

This shows two brain organoids

Autism Featured Genetics Neuroscience Open Neuroscience Articles

·May 2, 2022·5 min read

Gene Therapy Reverses Effects of Autism-Linked Mutation in Brain Organoids

A brain organoid study reveals how a genetic mutation associated with Pitt-Hopkins syndrome, a profound form of autism, disrupts neural development. Using gene-editing technology, researchers recovered the function of the TCF4 gene and effectively restored neural structure and function.

This shows a man breathing out a cloud of steam on a cold day

Autism Featured Neuroscience Open Neuroscience Articles

·October 13, 2021·4 min read

Rare Form of Autism Exhales Secrets of Breathing

Breathing difficulties associated with Pitt Hopkins syndrome, a rare form of autism, have been linked to a specific set of neurons in the brainstem.

This shows neurons

Autism Featured Genetics Neuroscience

·February 3, 2020·4 min read

New study links autism to specific cell

Postmortem study reveals those with ASD have cellular abnormalities that impair the production of myelin.

Image shows a DNA double helix model.

Autism Featured Genetics

·March 11, 2016·4 min read

Study Identifies Potential Treatment for Autism Spectrum Disorder

Researchers have developed a potential treatment for Pitt-Hopkins syndrome, an autism spectrum disorder.