Genetic testing

Recent articles

Two paper arrows intersect to form a double helix.

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.

By Holly Barker
19 June 2025 | 5 min listen
Tic-tac-toe board with pills representing x’s and o’s.

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.

By Sydney Wyatt
18 April 2025 | 7 min read
Research image of rodent brains.

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.

By Holly Barker
3 April 2025 | 4 min read
Research image highlighting different brain regions.

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.

By Holly Barker
16 January 2025 | 6 min read
Stock photograph of a women and her young child at a clinician’s office.

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.

By Lauren Schenkman
15 August 2024 | 7 min read
A hand holds a stack of speech bubbles.

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.

By Shafali Spurling Jeste
11 July 2024 | 7 min read
two people sit on opposite edges of a cliff

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.

By Cathleen O’Grady
7 March 2024 | 3 min read
Research image of neurons.

Abundant motor proteins disrupt cries in FOXP2 mice

Knocking down the gene that codes for the proteins normalizes the vocalizations.

By Laura Dattaro, Maaisha Osman
28 July 2023 | 3 min read
Illustration of half of a brain on the left and half of a heart on the right

Change of heart and mind: Autism’s ties to cardiac defects

Children with congenital heart disease have an increased likelihood of autism. Why?

By Lauren Schenkman
21 July 2023 | 12 min read
MRI scan of a 2-year-old child.

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.

By Laura Dattaro
27 February 2023 | 6 min read

Explore more from The Transmitter

Astrocytes sense neuromodulators to orchestrate neuronal activity and shape behavior

Astrocytes serve as crucial mediators of neuromodulatory processes previously attributed to direct communication between neurons, four new studies show.

By Claudia López Lloreda
27 June 2025 | 9 min listen

Authors correct image errors in Neuron paper that challenged microglia-to-neuron conversion

The issue with the supplementary figures likely does not change the conclusions of the paper, according to an outside expert.

By Shaena Montanari
26 June 2025 | 3 min read

Building a climate neuroscience subfield: Q&A with Angie Michaiel

Michaiel, a program officer at the Kavli Foundation, shares what it took to cultivate research on the relationship between climate change and the nervous system.

By Calli McMurray
26 June 2025 | 5 min read