Genetic testing
Recent articles
Cell ‘antennae’ link autism, congenital heart disease
Variants in genes tied to both conditions derail the formation of cilia, the tiny hair-like structure found on almost every cell in the body, a new study finds.
Cell ‘antennae’ link autism, congenital heart disease
Variants in genes tied to both conditions derail the formation of cilia, the tiny hair-like structure found on almost every cell in the body, a new study finds.
Genetic background steers PTEN syndrome traits
People with the syndrome, caused by variants in the gene PTEN, often have autism or cancer, or both, but it depends on the genetic diversity encoded in the components of distinct cell signaling pathways, according to a new study.
Genetic background steers PTEN syndrome traits
People with the syndrome, caused by variants in the gene PTEN, often have autism or cancer, or both, but it depends on the genetic diversity encoded in the components of distinct cell signaling pathways, according to a new study.
Basic pain research ‘is not working’: Q&A with Steven Prescott and Stéphanie Ratté
Prescott and Ratté critique the clinical relevance of preclinical studies in the field and highlight areas for improvement.
Basic pain research ‘is not working’: Q&A with Steven Prescott and Stéphanie Ratté
Prescott and Ratté critique the clinical relevance of preclinical studies in the field and highlight areas for improvement.
PTEN problems underscore autism connection to excess brain fluid
Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.
PTEN problems underscore autism connection to excess brain fluid
Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.
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.
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.
Leveraging the power of community to strengthen clinical trials for rare genetic syndromes
Families can become not only participants but champions of these research efforts.
Leveraging the power of community to strengthen clinical trials for rare genetic syndromes
Families can become not only participants but champions of these research efforts.
Spectrum 10K consultation report delayed
The U.K.-based genetics study launched the consultation more than a year ago in response to fierce criticism from autistic self-advocates.
Spectrum 10K consultation report delayed
The U.K.-based genetics study launched the consultation more than a year ago in response to fierce criticism from autistic self-advocates.
Abundant motor proteins disrupt cries in FOXP2 mice
Knocking down the gene that codes for the proteins normalizes the vocalizations.
Abundant motor proteins disrupt cries in FOXP2 mice
Knocking down the gene that codes for the proteins normalizes the vocalizations.
Change of heart and mind: Autism’s ties to cardiac defects
Children with congenital heart disease have an increased likelihood of autism. Why?
Change of heart and mind: Autism’s ties to cardiac defects
Children with congenital heart disease have an increased likelihood of autism. Why?
Explore more from The Transmitter
Researchers retract multisensory learning paper after failed replications
Even though one set of experiments did not hold up, the authors stand by the original conclusions of the work and plan to resubmit it as a new paper.
Researchers retract multisensory learning paper after failed replications
Even though one set of experiments did not hold up, the authors stand by the original conclusions of the work and plan to resubmit it as a new paper.
Cortical evolution, ZBTB18, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 30 March.
Cortical evolution, ZBTB18, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 30 March.
Letter asks Congress for nearly $500 million to sustain BRAIN Initiative
The one-time boost would help counter the planned end this year to one of the program’s long-standing funding streams, which will result in a $195 million drop in funding for fiscal year 2027.
Letter asks Congress for nearly $500 million to sustain BRAIN Initiative
The one-time boost would help counter the planned end this year to one of the program’s long-standing funding streams, which will result in a $195 million drop in funding for fiscal year 2027.