22q11

Research image of brain activity

Connectivity takes U-turn in people with rare autism-linked mutations

Patterns of brain connectivity shift during puberty in people with deletion of the 22q11.2 chromosomal region.

By Holly Barker
30 May 2024 | 4 min read

Genome structure could be key factor in some forms of autism

Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.

By Giorgia Guglielmi
28 March 2024 | 4 min read

Spotted around the web: Synthetic embryos; Angelman gene therapy

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

By Jill Adams, Calli McMurray
30 June 2023 | 3 min read
Illustration of DNA methylation.
Spectrum Microphone

‘Polygenic risk scores’ for autism, explained

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.

By Giorgia Guglielmi
23 May 2023 | 4 min read
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.

By Laura Dattaro
24 March 2023 | 4 min read
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

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.

By Peter Hess
28 February 2023 | 7 min read
Conceptual illustration of a door leading from one area of the brain to another area of the brain.
Spectrum Microphone

Autism’s genetic heterogeneity evident in brain connectivity patterns

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

By Angie Voyles Askham
27 September 2022 | 5 min read
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

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

By Angie Voyles Askham
24 August 2022 | 4 min read
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

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.

By Angie Voyles Askham
20 July 2022 | 5 min read

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

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

By Anna Goshua
8 December 2021 | 3 min read

Explore more from The Transmitter

10 standards for brain electrode-array recordings enhance reproducibility

Electrophysiology findings can vary widely from lab to lab, even among those using identical protocols. New guidelines set forth in a preprint should help.

By Elissa Welle
12 July 2024 | 5 min read
A hand holds a stack of speech bubbles.

Leveraging the power of community to strengthen clinical trials for rare genetic syndromes

Families can become not only participants but champions of these research efforts.

By Shafali Spurling Jeste
11 July 2024 | 7 min read

Accounting for a mosaic of sex differences: Q&A with Nicola Grissom

Breaking the binary view of sex traits can enable researchers to represent the broader complexity of behavior and cognition.

By Olivia Gieger
10 July 2024 | 7 min read