Genetic testing

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
Spectrum Microphone

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.
Spectrum Microphone

‘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
Scientist examining DNA (deoxyribonucleic acid) results on a screen in a laboratory.
Spectrum Microphone

How an expert panel evaluates genes for autism genetic tests

About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.

By Laura Dattaro
22 July 2022 | 8 min read
Genes Microphone

The most personalized medicine: Studying your own child’s rare condition

A handful of scientists are committed to advancing research on the autism-related genetic conditions their own children have.

By Lydia Denworth
7 July 2022 | 18 min listen

Explore more from The Transmitter

Research image of neurons in the fly’s ventral nerve cord.

New connectomes fly beyond the brain

Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.

By Laura Dattaro
26 July 2024 | 7 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read

Cerebellar circuit may convert expected pain relief into real thing

The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.

By Angie Voyles Askham
24 July 2024 | 6 min read