22q11
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
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
‘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
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
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
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
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
Myelin loss may explain how autism-linked DNA deletion affects cognition
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.
Myelin loss may explain how autism-linked DNA deletion affects cognition
Copy number variations linked to autism have diverse but overlapping effects
People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.
Copy number variations linked to autism have diverse but overlapping effects
Explore more from The Transmitter
At the credit crossroads: Modern neuroscience needs a cultural shift to adopt new authorship practices
Old heuristics to acknowledge contributors—calling out first and last authors, with everyone else in between—don’t work well for large collaborative and interdisciplinary projects, yet they remain the default.
At the credit crossroads: Modern neuroscience needs a cultural shift to adopt new authorship practices
Old heuristics to acknowledge contributors—calling out first and last authors, with everyone else in between—don’t work well for large collaborative and interdisciplinary projects, yet they remain the default.
Rat neurons thrive in a mouse brain world, testing ‘nature versus nurture’
Neurons from the two rodents can wire up together to form functional circuits—all while maintaining some species-specific properties, two new studies show.
Rat neurons thrive in a mouse brain world, testing ‘nature versus nurture’
Neurons from the two rodents can wire up together to form functional circuits—all while maintaining some species-specific properties, two new studies show.
It’s past time to stop using the Reading the Mind in the Eyes Test
The widely used measure of “theory of mind” needs to be re-examined, along with the long-standing claim that autism is linked to a lack of this ability.
It’s past time to stop using the Reading the Mind in the Eyes Test
The widely used measure of “theory of mind” needs to be re-examined, along with the long-standing claim that autism is linked to a lack of this ability.