Rare variants
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
![Research illustration groups genes by their effects on brain cell types.](https://www.thetransmitter.org/wp-content/uploads/2024/06/fig-6a-1024x683.webp)
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
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.
![](https://www.thetransmitter.org/wp-content/uploads/2024/03/DNA-variants-mutations-811-1024x692.webp)
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.
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
![Research image of organoids in the forebrain.](https://www.thetransmitter.org/wp-content/uploads/2023/09/1200-head-size-autism-two-major-subtypes.png)
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
![Blurry photograph of a crowd of people on a street.](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-phenotypic-genetic-variants-autism.png)
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
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.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
![Composite research image of organoids at several stages of development.](https://www.thetransmitter.org/wp-content/uploads/2023/05/844-PTEN-genetic-background-autism-linked-mutation-final-1.png)
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
![Illustration of a room with DNA sequence wallpaper and three doors leading to abstract new environments.](https://www.thetransmitter.org/wp-content/uploads/2023/04/844-lede-future-of-autism-treatments.jpg)
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
Lessons from n-of-1 trials: A conversation with Joseph Gleeson
Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.
![Illustration of a single patient in a clinical trial sitting on a bed in a glitchy, imperfectly rendered room.](https://www.thetransmitter.org/wp-content/uploads/2023/03/844-gleeson-n-of-1-autism.jpg)
Lessons from n-of-1 trials: A conversation with Joseph Gleeson
Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.
Going on Trial: Trofinetide approval for Rett; n-of-1 ASO therapies; cord-blood deals
This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.
![A hand reaches from above to add a pill to a stack that is resting against the x-axis of a graph.](https://www.thetransmitter.org/wp-content/uploads/2023/01/844-going-on-trial-autism-drugs-01.jpg)
Going on Trial: Trofinetide approval for Rett; n-of-1 ASO therapies; cord-blood deals
This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.
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.
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.