Rare variants
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.
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.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
Lessons from n-of-1 trials: A conversation with Joseph Gleeson
Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.
Lessons from n-of-1 trials: A conversation with Joseph Gleeson
Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.
Going on Trial: Trofinetide approval for Rett; n-of-1 ASO therapies; cord-blood deals
This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.
Going on Trial: Trofinetide approval for Rett; n-of-1 ASO therapies; cord-blood deals
This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.
Explore more from The Transmitter
Kim Stachenfeld on the dance between neuroscience and artificial intelligence
As a researcher at both Google DeepMind and Columbia University, Stachenfeld offers cross-disciplinary insight into how to understand the brain.
Kim Stachenfeld on the dance between neuroscience and artificial intelligence
As a researcher at both Google DeepMind and Columbia University, Stachenfeld offers cross-disciplinary insight into how to understand the brain.
PPP2R5D gene; social-communication intervention in infants; autism and suicide
Here is a roundup of autism-related news and research spotted around the web for the week of 9 September.
PPP2R5D gene; social-communication intervention in infants; autism and suicide
Here is a roundup of autism-related news and research spotted around the web for the week of 9 September.
Should I work with these people? A guide to collaboration
Kevin Bender offers advice for early-career neuroscientists on how to choose the right collaborations and avoid the bad ones.
Should I work with these people? A guide to collaboration
Kevin Bender offers advice for early-career neuroscientists on how to choose the right collaborations and avoid the bad ones.