Pitt Hopkins Syndrome News and Research

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Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome

UNC School of Medicine Scientists have shown for the first time that postnatal gene therapy may be able to prevent or reverse many deleterious effects of a rare genetic disorder called Pitt-Hopkins syndrome.

10 May 2022

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.

2 May 2022

COVID-19 and subacute neuropsychiatric symptoms in adolescents

A new paper discusses neurologic symptoms in children with COVID-19.

27 Oct 2021

Researchers use fruit fly to develop a novel disease model for Pitt-Hopkins syndrome

The researchers from the TalTech molecular neurobiology laboratory headed by professor Tõnis Timmusk used the fruit fly, Drosophila melanogaster to develop a novel disease model for Pitt-Hopkins syndrome (PTHS).

29 Sep 2020

People with ASD have cellular abnormality that impairs myelin production, study reveals

People with autism spectrum disorder appear to suffer malfunctions in a cell that produces a special coating around nerve fibers that facilitates efficient electrical communication across the brain.

4 Feb 2020

Microarray analysis can identify chromosome abnormalities in children with Pitt-Hopkins syndrome

Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, recently showed that microarray analysis can identify small DNA alterations in individuals with Pitt-Hopkins syndrome, a rare and poorly characterized genetic disorder.

19 Nov 2009

Pitt Hopkins Syndrome News and Research

Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome

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

COVID-19 and subacute neuropsychiatric symptoms in adolescents

Researchers use fruit fly to develop a novel disease model for Pitt-Hopkins syndrome

People with ASD have cellular abnormality that impairs myelin production, study reveals

Microarray analysis can identify chromosome abnormalities in children with Pitt-Hopkins syndrome

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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