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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.

April 2023
Research diagram of gene clusters.

Atlas of gene activity in prenatal brain holds clues to autism

by  /  24 April 2023

Genes exert their strongest influence on the brain in the first half of gestation — a key window for autism and other neurodevelopmental conditions.

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Research image showing FOXP1 gene expression in female zebra finch brains.

Lacking autism-linked gene, female birds tune out favorite songs

by  /  21 April 2023

The gene, FOXP1, influences an animal’s motivation to listen to social communication, a new study suggests.

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Research image of the blood-brain barrier.

Rare autism-linked mutation starves growing neurons of essential nutrients

by  /  10 April 2023

The mutation prevents certain amino acids from entering neurons, causing the cells to die early in development.

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Research image of radial glial cells in a human brain organoid.

Immune molecule alters cellular makeup of human brain organoids

by  /  5 April 2023

The changes may help explain the link between maternal infection and autism, though more research is needed.

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March 2023
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.

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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.

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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.

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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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