Skip to main content

TOPIC

Genes

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

December 2020
Global map of 17,800 human proteins.
News / Toolbox

Proteome map identifies more than 90 percent of all human proteins

by  /  9 December 2020

Researchers expand on the already enormous progress made on the Human Proteome Project

0 Comments
Cells transporting NCKAP1 protein in and out of nucleus
News

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

0 Comments
Brain images color-coded to show structural changes in autism.
News

Gene expression maps reveal origins of brain changes from autism mutations

by  /  4 December 2020

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

0 Comments
stock image shows a color coded DNA sequence
News / Toolbox

Catalog details sex differences in gene expression, regulation

by  /  2 December 2020

Researchers expand a massive repository of data on gene activity in people to show differences between males and females.

0 Comments
November 2020
Brain diagrams showing connectivity within different regions.
News

Gene mutations point to overlaps in brain connectivity for autism, schizophrenia

by  /  30 November 2020

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

0 Comments
Young zebrafish have transparent skin, which allows researchers to track the movements of glowing beads of excrement through their gut.
News

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.

0 Comments
Mother affectionately hugging young son.
News

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.

0 Comments
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome
News

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.

0 Comments
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.

0 Comments
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.

0 Comments