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
New findings on Phelan-McDermid syndrome; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 1 September.
New findings on Phelan-McDermid syndrome; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 1 September.
From bench to bot: Why AI-powered writing may not deliver on its promise
Efficiency isn’t everything. The cognitive work of struggling with prose may be a crucial part of what drives scientific progress.
From bench to bot: Why AI-powered writing may not deliver on its promise
Efficiency isn’t everything. The cognitive work of struggling with prose may be a crucial part of what drives scientific progress.
Bringing neuroscience to rural Mexico: In conversation with Mónica López-Hidalgo
By offering education and translating scientific terms into Indigenous languages, López-Hidalgo’s outreach program, Neurociencias Para Todos, provides schoolteachers with tools to bring neuroscience to their communities.
Bringing neuroscience to rural Mexico: In conversation with Mónica López-Hidalgo
By offering education and translating scientific terms into Indigenous languages, López-Hidalgo’s outreach program, Neurociencias Para Todos, provides schoolteachers with tools to bring neuroscience to their communities.