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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.

July 2022

New software flags autism rat model’s telltale squeaks

by  /  29 July 2022

By breaking rodent vocalizations into parts, TrackUSF distinguishes rats with mutations in the SHANK3 gene from their wildtype counterparts.

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Sequencing trick identifies brain cells affected by large autism-linked mutation

by  /  25 July 2022

The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.

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Scientist examining DNA (deoxyribonucleic acid) results on a screen in a laboratory.

How an expert panel evaluates genes for autism genetic tests

by  /  22 July 2022

About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.

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Plethora of protein-making machines in neurons may underlie fragile X

by  /  21 July 2022

An overabundance of ribosomes drives an imbalance of proteins produced from long and short genetic transcripts in a mouse model of fragile X syndrome.

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Concept illustration of DNA deletion: 2 DNA strands extend horizontally across a burnt orange background. The bottom is intact, while there are gaps in the top strand.

Deletions on chromosome 22 have ripple effects across genome

by  /  20 July 2022

Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.

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Illustration shows calcium signaling astrocytes, which are star-shaped and change color from light blue to purple.

Portrait of a research field: astrocytes in autism

by  /  14 July 2022

Long cast in supporting roles in the brain, astrocytes are now emerging as primary players in certain characteristics of autism and related conditions.

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Figure in space heads towards unknown, dark area.

The final frontier: Autism geneticists take on the noncoding genome

by  /  12 July 2022

The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.

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The most personalized medicine: Studying your own child’s rare condition

by  /  7 July 2022

A handful of scientists are committed to advancing research on the autism-related genetic conditions their own children have.

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Mouse study links dopamine in cerebellum to social behavior

by  /  6 July 2022

The signaling molecule’s social role in the ‘little brain’ involves Purkinje neurons in the Crus I and Crus II regions, a new study reveals.

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New resource maps gene expression, regulation in neuron subtypes

by  /  1 July 2022

The catalog could help researchers understand the effects of autism-linked DNA variants that fall outside genes.

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