22q11
Recent articles
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.
Deletions on chromosome 22 have ripple effects across genome
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Deletions on chromosome 22 have ripple effects across genome
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Explore more from The Transmitter
Machine learning spots neural progenitors in adult human brains
But the finding has not settled the long-standing debate over the existence and extent of neurogenesis during adulthood, says Yale University neuroscientist Juan Arellano.
Machine learning spots neural progenitors in adult human brains
But the finding has not settled the long-standing debate over the existence and extent of neurogenesis during adulthood, says Yale University neuroscientist Juan Arellano.
Xiao-Jing Wang outlines the future of theoretical neuroscience
Wang discusses why he decided the time was right for a new theoretical neuroscience textbook and how bifurcation is a key missing concept in neuroscience explanations.
Xiao-Jing Wang outlines the future of theoretical neuroscience
Wang discusses why he decided the time was right for a new theoretical neuroscience textbook and how bifurcation is a key missing concept in neuroscience explanations.
Memory study sparks debate over statistical methods
Critics of a 2024 Nature paper suggest the authors failed to address the risk of false-positive findings. The authors argue more rigorous methods can result in missed leads.
Memory study sparks debate over statistical methods
Critics of a 2024 Nature paper suggest the authors failed to address the risk of false-positive findings. The authors argue more rigorous methods can result in missed leads.