Sequencing
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.
Method pinpoints cell-specific effects of autism-linked mutations
The approach, which combines CRISPR with single-cell analyses of organoids, suggests that intermediate progenitor cells are especially vulnerable to mutations associated with autism.
![Research image of cerebral organoids.](https://www.thetransmitter.org/wp-content/uploads/2023/10/1200-cell-specific-effects-autism-linked-mutations-lede.png)
Method pinpoints cell-specific effects of autism-linked mutations
The approach, which combines CRISPR with single-cell analyses of organoids, suggests that intermediate progenitor cells are especially vulnerable to mutations associated with autism.
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.
Preprint questions validity of postmortem brain studies
But the alternatives, including living-brain biopsies, raise logistical and ethical questions, experts say.
![A brain slice under a microscope.](https://www.thetransmitter.org/wp-content/uploads/2023/06/1200-postmortem-brain-studies-validity-autism.jpg)
Preprint questions validity of postmortem brain studies
But the alternatives, including living-brain biopsies, raise logistical and ethical questions, experts say.
Atlas of gene activity in prenatal brain holds clues to autism
Genes exert their strongest influence on the brain in the first half of gestation — a key window for autism and other neurodevelopmental conditions.
![Research diagram of gene clusters.](https://www.thetransmitter.org/wp-content/uploads/2023/04/844-lede-final-1.png)
Atlas of gene activity in prenatal brain holds clues to autism
Genes exert their strongest influence on the brain in the first half of gestation — a key window for autism and other neurodevelopmental conditions.
African genetics study NeuroDev shares initial findings
The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.
![Image of scientists working in a lab.](https://www.thetransmitter.org/wp-content/uploads/2023/03/844-cc_KEMRI-Lab_edited.jpg)
African genetics study NeuroDev shares initial findings
The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.
Chromatin remodeling tied to altered splicing in autism model
Exposing neurons to valproic acid, a well-known environmental risk factor for autism, disrupts their ability to generate different proteins from the same gene.
![Illustration of neurons.](https://www.thetransmitter.org/wp-content/uploads/2023/02/844-autism-chromatin-remodeling-altered-splicing.jpg)
Chromatin remodeling tied to altered splicing in autism model
Exposing neurons to valproic acid, a well-known environmental risk factor for autism, disrupts their ability to generate different proteins from the same gene.
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.
How geneticists can gain greater buy-in from the autistic community
My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.
![Human silhouettes are seen against a colorful, abstract representation of a genetic sequence.](https://www.thetransmitter.org/wp-content/uploads/2022/09/Wrigley-Kline-genetics-ethics-autism-844.jpg)
How geneticists can gain greater buy-in from the autistic community
My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.
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.