Copy number variation
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
![A couple drinks tea at a café.](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-partner-selection-autism-linked-variants-1.jpg)
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Mitochondria mediate effects of PTEN mutations
Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.
![Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.](https://www.thetransmitter.org/wp-content/uploads/2023/06/1200-mitochondria-autism.jpg)
Mitochondria mediate effects of PTEN mutations
Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.
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.
![Research diagram of brains viewed from overhead and in profile.](https://www.thetransmitter.org/wp-content/uploads/2023/03/844-CNVs-final-1.png)
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.
Common and rare autism-linked variants share functional effects
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
![X chromosome against a dark background.](https://www.thetransmitter.org/wp-content/uploads/2022/12/Chromosome-16p-research-autism-844.jpg)
Common and rare autism-linked variants share functional effects
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
Autistic people at increased genetic risk of sleep problems
Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.
![A young girl rubs her eyes in a dark room.](https://www.thetransmitter.org/wp-content/uploads/2022/10/844-genes-circadian-pathway-sleep-difficulties-insomnia-risk-autism.jpg)
Autistic people at increased genetic risk of sleep problems
Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.
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.
![Conceptual illustration of a door leading from one area of the brain to another area of the brain.](https://www.thetransmitter.org/wp-content/uploads/2022/09/brain-connectivity-patterns-autism-genetic-heterogeneity-844.jpg)
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.
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
![Illustration of two chromosomes with copy number variants.](https://www.thetransmitter.org/wp-content/uploads/2022/08/844_Duplication-Toolbox-Autism.jpg)
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
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.
![A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left](https://www.thetransmitter.org/wp-content/uploads/2022/08/longitudinal-cortical-development-autism-844.jpg)
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.
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
![Conceptual illustration of chromosomal abnormalities](https://www.thetransmitter.org/wp-content/uploads/2022/08/Copy-numner-variants-genes-autism-844.jpg)
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Scans of sundry variant types uncover autism-linked genes
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
![Conceptual illustration of a DNA double helix](https://www.thetransmitter.org/wp-content/uploads/2022/08/844-denovo-inherited-variants-autism.jpg)
Scans of sundry variant types uncover autism-linked genes
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Explore more from The Transmitter
New connectomes fly beyond the brain
Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.
![Research image of neurons in the fly’s ventral nerve cord.](https://www.thetransmitter.org/wp-content/uploads/2024/07/lede-motormodules-1200-1024x692.webp)
New connectomes fly beyond the brain
Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
![Illustration of researchers talking to laypeople amidst strands of DNA.](https://www.thetransmitter.org/wp-content/uploads/2024/07/1200_Charman-1024x687.webp)
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
Cerebellar circuit may convert expected pain relief into real thing
The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.
![](https://www.thetransmitter.org/wp-content/uploads/2024/07/paincircuit-1200-1024x692.webp)
Cerebellar circuit may convert expected pain relief into real thing
The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.