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Spectrum: Autism Research News

Tag: MECP2

February 2022
Micrograph of neurons with excess neurons due to excess MECP2 expression.

Protein complex points to new route to Rett syndrome

by  /  18 February 2022

Mutations in a newly identified protein complex that interacts with the Rett protein also lead to a Rett-like condition in mice, researchers say.

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Real-world data on Rett syndrome: Q&A with Jana von Hehn

by  /  8 February 2022

The Rett Syndrome Global Registry is gathering data from people around the world with the rare condition to support clinical trials.

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Dr. Hollis Cline at her desk.

Hollis Cline: Leapfrogging over gaps in autism research

by  /  1 February 2022

A basic scientist at heart, Hollis Cline has spent decades pushing the boundaries of what researchers can see in the brain. Her persistence has led to a deeper understanding of how some autism-linked genes influence brain development.

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January 2022

Growth factor analogue shows promise for Rett syndrome in late-stage trial

by  /  25 January 2022

Girls and young women with Rett syndrome have less severe anxiety and breathing problems after treatment with trofinetide, an analogue of insulin-like growth factor 1, according to an unpublished placebo-controlled trial.

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November 2021

Gene therapy for rare form of autism may treat another

by  /  11 November 2021

A MECP2 gene therapy for Rett syndrome eases repetitive behaviors, anxiety and hyperactivity in a mouse model of Pitt-Hopkins syndrome.

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Dispatches from SfN 2021: Mitochondria, Rett therapy and oxytocin

These short reports from Spectrum journalists highlight some of the autism-related findings that caught our attention at the meeting this past week.

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July 2021
Micrographs comparing motor cortex neurons in mice with and without an extra copy of MECP2 gene.

Blocking key pathway reverses brain, behavior changes in autism mouse model

by  /  19 July 2021

Neurons in mice with an autism-linked mutation sprout extraneous protrusions, an overgrowth accompanied by above-average motor learning. Inhibiting a cell signaling pathway reverses the effect.

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June 2021
Dr. Huda Zoghbi portrait

Huda Zoghbi: Taking genetic inquiry to the next level

by  /  25 June 2021

Over the course of a career spanning more than three decades, Huda Zoghbi has won almost every major biology and neuroscience research award that exists. More than 20 years since she discovered the gene behind Rett syndrome, she remains laser focused on unlocking the condition’s secrets and finding effective treatments.

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lab technician pipetting in dramatic light

Alternative gene-therapy approaches take aim at Rett syndrome

by  /  16 June 2021

Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.

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March 2021
Mouse brain neurons labeled with a genetic marker show pink on a dramatic blue background.

Early training forestalls motor, memory difficulties in mouse model of Rett syndrome

by  /  24 March 2021

Motor and memory training early in life postpones the onset of difficulties in those areas in a mouse model of Rett syndrome, and stimulating neurons involved in those skills appears to mimic the effects of training.

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