Genetic testing

Recent articles

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
An illustration of doctors examining a larger-than-life DNA strand

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.

By Isabel Ruehl
12 December 2022 | 4 min read
Image displaying impeded interneuron 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.

By Isabel Ruehl
30 November 2022 | 4 min read
Human silhouettes are seen against a colorful, abstract representation of a genetic sequence.

How geneticists can gain greater buy-in from the autistic community

My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.

By Wrigley Kline
9 September 2022 | 7 min read

Explore more from The Transmitter

Colorful illustration of a latticework of proteins.

Cracking the code of the extracellular matrix

Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.

By Anna Victoria Molofsky
17 January 2025 | 5 min read
A repeated DNA strand extends farther from the left side of the image with each iteration.

Huntington’s disease gene variants past a certain size poison select cells

The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.

By Angie Voyles Askham
16 January 2025 | 6 min read
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David Krakauer reflects on the foundations and future of complexity science

In his book “The Complex World,” Krakauer explores how complexity science developed, from its early roots to the four pillars that now define it—entropy, evolution, dynamics and computation.

By Paul Middlebrooks
14 January 2025 | 106 min listen