Genetic testing
Recent articles
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?
Mapping genetic influences on the infant brain: A chat with Rebecca Knickmeyer
Researchers know little about the ways genetic variants affect development in the infant brain. Knickmeyer, who launched the Organization for Imaging Genomics in Infancy, has spent the past five years trying to close the gap.
Mapping genetic influences on the infant brain: A chat with Rebecca Knickmeyer
Researchers know little about the ways genetic variants affect development in the infant brain. Knickmeyer, who launched the Organization for Imaging Genomics in Infancy, has spent the past five years trying to close the gap.
Explore more from The Transmitter
Systems and circuit neuroscience need an evolutionary perspective
To identify fundamental neuroscientific principles that generalize across species, neuroscientists must frame their research through an evolutionary lens.
Systems and circuit neuroscience need an evolutionary perspective
To identify fundamental neuroscientific principles that generalize across species, neuroscientists must frame their research through an evolutionary lens.
Keith Hengen and Woodrow Shew explore criticality and cognition
The two discuss their evolving views of brain criticality as a central organizing principle of cognition, development and learning.
Keith Hengen and Woodrow Shew explore criticality and cognition
The two discuss their evolving views of brain criticality as a central organizing principle of cognition, development and learning.
NIH proposal sows concerns over future of animal research, unnecessary costs
The new NIH policy calls for greater incorporation of new approach methodologies in all future Notices of Funding Opportunities related to animal model systems.
NIH proposal sows concerns over future of animal research, unnecessary costs
The new NIH policy calls for greater incorporation of new approach methodologies in all future Notices of Funding Opportunities related to animal model systems.