22q11
Recent articles
Novel assembloid illuminates serotonin changes linked to 22q11.2 deletion
The combination of a serotonin-producing organoid with an organoid based on the developing cerebral cortex offers a new way to investigate neuromodulation.
Novel assembloid illuminates serotonin changes linked to 22q11.2 deletion
The combination of a serotonin-producing organoid with an organoid based on the developing cerebral cortex offers a new way to investigate neuromodulation.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman
A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.
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.
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.
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.
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.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
‘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.
‘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.
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.
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.
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.
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.
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.
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.
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.
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.
Explore more from The Transmitter
The term ‘model organism’ should be reserved for biological systems
By referring to artificial neural networks as model organisms, we run the risk of distorting funding priorities and disregard the explanatory power of a shared evolutionary history across biological organisms.
The term ‘model organism’ should be reserved for biological systems
By referring to artificial neural networks as model organisms, we run the risk of distorting funding priorities and disregard the explanatory power of a shared evolutionary history across biological organisms.
New phase of BRAIN Initiative spawns basal ganglia ‘parts list’
With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.
New phase of BRAIN Initiative spawns basal ganglia ‘parts list’
With a standardized cell naming system and infrastructure for data collection and analysis, the basal ganglia project sets the stage for a whole-brain primate atlas.
Machine-learning model spots autism-linked variants that scramble splicing
The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.
Machine-learning model spots autism-linked variants that scramble splicing
The model provides a way to investigate genetic variation in regions of the genome whose functions have been difficult to interpret.