Whole-genome sequencing
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.
Autism subgroups converge on cell growth pathway
Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.
![Neural progenitor cells in a culture medium, color-enhanced scanning electron micrograph (SEM).](https://www.thetransmitter.org/wp-content/uploads/2024/04/844-autism-forms-converge-cell-growth-pathway.jpg)
Autism subgroups converge on cell growth pathway
Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.
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.
How long-read sequencing will transform neuroscience
New technology that delivers much more than a simple DNA sequence could have a major impact on brain research, enabling researchers to study transcript diversity, imprinting and more.
![A figure walks along a long road with a gene-sequence-like pattern.](https://www.thetransmitter.org/wp-content/uploads/2023/11/1200_longread-1-1024x683.webp)
How long-read sequencing will transform neuroscience
New technology that delivers much more than a simple DNA sequence could have a major impact on brain research, enabling researchers to study transcript diversity, imprinting and more.
Common genetic variants shape the structure of the cortex
A genome-wide association study lays a foundation for deeper investigation of these variants in neurodevelopmental conditions.
![](https://www.thetransmitter.org/wp-content/uploads/2023/09/1200-final-1.png)
Common genetic variants shape the structure of the cortex
A genome-wide association study lays a foundation for deeper investigation of these variants in neurodevelopmental conditions.
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.
Evdokia Anagnostou and the concept of a good life
The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.
![An illustration of Evodkia Anagnastou](https://www.thetransmitter.org/wp-content/uploads/2024/01/1200-evdokia-anagnostou-synaptic-podcast-1024x692.png)
Evdokia Anagnostou and the concept of a good life
The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.
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.
Null and Noteworthy: Modified MRI; father findings
This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.
![Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.](https://www.thetransmitter.org/wp-content/uploads/2022/04/844_Null2_01.jpg)
Null and Noteworthy: Modified MRI; father findings
This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.
A mix of common and rare variants shapes autism inheritance patterns
The study also reveals a link between language development and common variants.
![Photograph of a parent crossing a city street with two children](https://www.thetransmitter.org/wp-content/uploads/2022/11/844-rare-common-inherited-variants-autism.jpg)
A mix of common and rare variants shapes autism inheritance patterns
The study also reveals a link between language development and common variants.
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.
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.
New ‘decoder’ tool translates functional neuroimaging terms across labs
The compendium of brain-parcellation atlases makes it possible to compare large-scale network data, which often involves different and overlapping network names.
![Research image of a variety of brain atlases.](https://www.thetransmitter.org/wp-content/uploads/2024/07/Fig2B-1200-1024x692.webp)
New ‘decoder’ tool translates functional neuroimaging terms across labs
The compendium of brain-parcellation atlases makes it possible to compare large-scale network data, which often involves different and overlapping network names.