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
Switching neural code may solve ongoing face-recognition debate
Face patch cells in macaque monkeys initially respond to images of any object but rapidly transition to attend to faces exclusively, a new study finds.
Switching neural code may solve ongoing face-recognition debate
Face patch cells in macaque monkeys initially respond to images of any object but rapidly transition to attend to faces exclusively, a new study finds.
Liset de la Prida explains how neuron subtypes may control the activity of large neural populations, from manifolds to ripples
De la Prida's work analyzing the varieties of sharp wave ripples in the hippocampus led to her discovery that specific types of neurons control the properties of neural manifolds.
Liset de la Prida explains how neuron subtypes may control the activity of large neural populations, from manifolds to ripples
De la Prida's work analyzing the varieties of sharp wave ripples in the hippocampus led to her discovery that specific types of neurons control the properties of neural manifolds.
At 25, INSAR needs to bring autism scientists together more than ever
As the International Society for Autism Research’s annual meeting in Prague this week celebrates its quarter-century anniversary, its president reflects on the field’s past successes, current challenges and needs for the future
At 25, INSAR needs to bring autism scientists together more than ever
As the International Society for Autism Research’s annual meeting in Prague this week celebrates its quarter-century anniversary, its president reflects on the field’s past successes, current challenges and needs for the future