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Genes

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

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Young zebrafish with transparent skin showing green glowing beads in gut.

Zebrafish and ‘Smurf cakes’ link autism gene mutation to digestive woes

by  /  24 November 2020
Mutations in a top autism gene called SYNGAP1 slow the rate at which zebrafish digest food and pass waste, and may also disrupt gut function in people.
News
Mother affectionately hugging young son.

Inheritance plays different roles in autism with and without intellectual disability

by  /  19 November 2020
Autism with intellectual disability is less heritable than autism alone, according to a new study of how the conditions run in extended families.
News
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome

Prenatal CRISPR therapy blocks Angelman syndrome traits in mice

by  /  9 November 2020
A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism.
November 2020
Photograph of lab researchers at Ultragenyx
News

Gene therapy trial for autism-linked condition is put on hold

by  /  5 November 2020

All five participants in a clinical trial of a gene therapy for Angelman syndrome experienced leg weakness, leading sponsors to pause the study.

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Group of DNA helixes are seen on black
News

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020
News

Integrating molecular data may reveal subgroups of autism

by  /  30 October 2020

An analysis of four molecular datasets shows a distinct signature, including changes in gene expression and chemical DNA modifications, in some autism brains.

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News

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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Black mother pushing her child on swing at playground.
News

First analysis of African autism cohort reveals millions of new variants

by  /  29 October 2020

Genome sequences from a research cohort of autistic African children and their families have revealed more than 4 million novel variants, some of which occur in genes not previously linked to the condition.

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Mature dad and his daughter plays with blocks
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Parental age plays small role in large mutations tied to autism

by  /  26 October 2020

Most of the large, spontaneous genetic mutations tied to autism are passed down from fathers. But, unlike with smaller mutations, a parent’s age is unlikely to up the rate at which they occur.

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Adolescent has cheek swabbed
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Autism, intellectual disability linked to levels of fragile X protein

by  /  26 October 2020

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

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Gut neurons and glia (red, green) are fragile and interwoven with other cells (blue) in the colon, making them tricky to isolate.
News / Toolbox

Cell maps reveal diversity of neurons in gut

by  /  21 October 2020

An atlas that details gene expression in neurons and other cells from the intestines of mice and people may help to elucidate the link between gut problems and autism.

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Mother and child having a conversation in nature.
News

Traits in mothers may signal gene variants for autism

by  /  16 October 2020

Autistic children’s traits track with subtle, autism-like behaviors in their mothers; women with these traits may also carry a genetic predisposition to the condition.

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Ralf Schmid, the research director in Neurodevelopmental diseases at the Gene Therapy Program Orphan Disease Center, loads replicated mouse dna into wells in the gel before applying electric current to test the viability of the dna.
Features / Deep Dive

A quest for Quincy: Gene therapies come of age for some forms of autism

by ,  /  14 October 2020

A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.

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