Genetic testing
Recent articles
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.
Whole-genome trove ties new genes, variants to autism
A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.
Whole-genome trove ties new genes, variants to autism
A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.
‘Assembloids’ lay bare autism-linked genes that hamper neuron development
The model enables the study of autism-linked genes at the earliest stages of neural development.
‘Assembloids’ lay bare autism-linked genes that hamper neuron development
The model enables the study of autism-linked genes at the earliest stages of neural development.
Explore more from The Transmitter
Functional MRI can do more than you think
Recent technological advances provide a range of new and different information about brain physiology. But taking full advantage of these gains depends on collaboration between engineers and neuroscientists.
Functional MRI can do more than you think
Recent technological advances provide a range of new and different information about brain physiology. But taking full advantage of these gains depends on collaboration between engineers and neuroscientists.
As federal funders desert mentorship programs for marginalized students, trainee-led initiatives fill the gap
Grassroots organizations, led by graduate students and postdoctoral researchers, are stepping up to provide neuroscience career training and guidance for students from marginalized backgrounds—and they need your support.
As federal funders desert mentorship programs for marginalized students, trainee-led initiatives fill the gap
Grassroots organizations, led by graduate students and postdoctoral researchers, are stepping up to provide neuroscience career training and guidance for students from marginalized backgrounds—and they need your support.
Split gene therapy delivers promise in mice modeling Dravet syndrome
The new approach overcomes viral packaging limitations by delivering SCN1A piecemeal and stitching it together in target cells.
Split gene therapy delivers promise in mice modeling Dravet syndrome
The new approach overcomes viral packaging limitations by delivering SCN1A piecemeal and stitching it together in target cells.