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Spectrum: Autism Research News

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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

by  /  24 March 2023
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
Adapted research image of immunofluorescence staining of primary cortical neurons showing expression of PTBP proteins and reduced level of the protein SYNGAP1.

‘Splice-switching’ strategy boosts SYNGAP1 expression

by  /  21 March 2023
The approach improves the function of SYNGAP1-deficient neurons in vitro, but whether it will work in people remains unclear.
Still image showing activity of activity of neurons with genetic mutations in the 15q11-13 chromosomal region.

Single gene insufficient to account for dup15q, Angelman traits

by  /  21 March 2023
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
March 2023
Drop of liquid medicine with air bubbles is dripping from a pipette on a light pink background.

FDA approval of trofinetide may spur further drug development for Rett

by  /  16 March 2023

The drug, welcomed by patients, might be just the first of many.

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Image of scientists working in a lab.

African genetics study NeuroDev shares initial findings

by  /  15 March 2023

The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.

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A grid of brain scans.

To repair DNA, neurons harness autism-linked proteins

by  /  6 March 2023

The proteins are part of a newly discovered complex that mends genetic damage exclusively in neurons.

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Illustration of a gloved hand reaching down to place a pill bottle on a pedestal.

Debut drug for Rett syndrome at edge of approval

by  /  2 March 2023

The U.S. Food and Drug Administration plans to make an approval decision on the first-ever drug for girls and women with Rett syndrome by 12 March.

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February 2023
Research image showing the presence of several proteins in neurons.

Protein networks identified in autism-linked genetic deletion

by  /  28 February 2023

The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.

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an image of a neuron

Neurons struggle to spike without fragile X gene

by  /  17 February 2023

FMR1 loss impairs sodium channels, hindering mouse neurons from generating the electrical signals needed to transmit information.

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Research image of cell bodies of rett-like neurons, some of which were treated with epigenome editors.

Epigenome edits unmute MECP2 in Rett-like neurons

by  /  16 February 2023

The approach removes methyl tags from the gene and shields it from other silencing factors without changing the gene itself, raising hopes for a new treatment.

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Research image shows elevated expression of certain genes, shown in pink and green, along with expected gene expression, shown in blue.

Autism-linked MYT1L mutations prompt ‘identity crisis’ in budding brain cells

by  /  14 February 2023

Both human and mouse progenitor cells with the alterations struggle to become neurons and instead express genes that are typically active only in muscle or the heart.

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Picture of a caged mouse with an EEG implanted.

Adult Angelman mice get some benefit from boosting UBE3A gene expression

by  /  9 February 2023

The treatment eases the animals’ sleep troubles, suggesting it has clinically meaningful effects beyond what was thought to be a critical window in early life.

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Illustration of neurons.

Chromatin remodeling tied to altered splicing in autism model

by  /  7 February 2023

Exposing neurons to valproic acid, a well-known environmental risk factor for autism, disrupts their ability to generate different proteins from the same gene.

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