Rare variants
Recent articles
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
Sequencing study spotlights tight web of genes tied to autism
The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Many autism-linked proteins influence hair-like cilia on human brain cells
The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes
People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.
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.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
Giant analysis reveals how autism-linked genes affect brain cell types
Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.
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.
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
Head size parts autism into two major subtypes
An imbalance in the number of excitatory neurons in early brain development may account for the difference.
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
Some who lack autism diagnosis carry variants tied to the condition
The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Explore more from The Transmitter
Altered visual processing in a mouse model of fragile X syndrome; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 16 June.
Altered visual processing in a mouse model of fragile X syndrome; and more
Here is a roundup of autism-related news and research spotted around the web for the week of 16 June.
This paper changed my life: Bradley Dickerson on how a 1940s fly neuroanatomy paper influences his research to this day
This classic paper by zoologist John Pringle describes the haltere—a small structure in flies that plays a crucial role in flight control. It taught me to think about circuits and behavior as greater than the sum of their parts.
This paper changed my life: Bradley Dickerson on how a 1940s fly neuroanatomy paper influences his research to this day
This classic paper by zoologist John Pringle describes the haltere—a small structure in flies that plays a crucial role in flight control. It taught me to think about circuits and behavior as greater than the sum of their parts.
NIH cuts quash $323 million for neuroscience research and training
“I am frightened for the state of the future of our field if this isn't reversed rapidly,” says Joshua Gordon, professor of psychiatry at Columbia University and former director of the National Institute of Mental Health.
NIH cuts quash $323 million for neuroscience research and training
“I am frightened for the state of the future of our field if this isn't reversed rapidly,” says Joshua Gordon, professor of psychiatry at Columbia University and former director of the National Institute of Mental Health.