Skip to main content

Spectrum: Autism Research News

Tag: 22q11

June 2023
Week of JuneJun
26th
2023

Spotted around the web: Synthetic embryos; Angelman gene therapy

by ,  /  30 June 2023

Here is a roundup of news and research for the week of 26 June.

Comments
May 2023
Illustration of DNA methylation.

‘Polygenic risk scores’ for autism, explained

by  /  23 May 2023

These scores — composite measures of a person’s autism-linked common genetic variants — cannot predict an autism diagnosis but could help researchers better understand the condition’s underlying biology.

Comments
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.

Comments
February 2023
Illustration of a sheet of red and white pills, with the red pills arranged in the form of a question mark.

Going on Trial: Orphan drugs; CBD; bumetanide

by  /  28 February 2023

This month’s newsletter takes a close look at the orphan drug program in the United States, several cannabis-based therapies and a secondary analysis of bumetanide, among other new developments in autism-related drug trials.

Comments
September 2022
Conceptual illustration of a door leading from one area of the brain to another area of the brain.

Autism’s genetic heterogeneity evident in brain connectivity patterns

by  /  27 September 2022

The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.

Comments
August 2022
A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left

Chromosome 22 mutations leave telltale marks on brain development in autistic people

by  /  24 August 2022

Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.

Comments
July 2022
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.

Comments
December 2021

Myelin loss may explain how autism-linked DNA deletion affects cognition

by  /  8 December 2021

Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.

Comments
February 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

Comments
January 2021

How polygenic scores can improve predictions about autism, schizophrenia

by  /  19 January 2021

Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.

Comments