Whole-genome sequencing

Neural progenitor cells in a culture medium, color-enhanced scanning electron micrograph (SEM).
Spectrum Microphone

Autism subgroups converge on cell growth pathway

Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.

By Angie Voyles Askham
2 April 2024 | 4 min listen

Genome structure could be key factor in some forms of autism

Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.

By Giorgia Guglielmi
28 March 2024 | 4 min read
A figure walks along a long road with a gene-sequence-like pattern.

How long-read sequencing will transform neuroscience

New technology that delivers much more than a simple DNA sequence could have a major impact on brain research, enabling researchers to study transcript diversity, imprinting and more.

By Tychele Turner
22 November 2023 | 6 min listen
Brain imaging Microphone

Common genetic variants shape the structure of the cortex

A genome-wide association study lays a foundation for deeper investigation of these variants in neurodevelopmental conditions.

By Lauren Schenkman
18 September 2023 | 5 min listen
Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

An imbalance in the number of excitatory neurons in early brain development may account for the difference.

By Charles Q. Choi
12 September 2023 | 4 min read
An illustration of Evodkia Anagnastou
Synaptic Microphone

Evdokia Anagnostou and the concept of a good life

The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.

By Brady Huggett
1 September 2023 | 77 min listen
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.
Spectrum Microphone

Mitochondria mediate effects of PTEN mutations

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

By Katie Moisse
26 June 2023 | 4 min read
Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Null and Noteworthy: Modified MRI; father findings

This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.

By Emily Harris
22 June 2023 | 4 min read
Photograph of a parent crossing a city street with two children
Spectrum Microphone

A mix of common and rare variants shapes autism inheritance patterns

The study also reveals a link between language development and common variants.

By Katharine Gammon
4 November 2022 | 3 min read
Conceptual illustration of a DNA double helix
Spectrum Microphone

Scans of sundry variant types uncover autism-linked genes

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

By Chloe Williams
18 August 2022 | 7 min read

Explore more from The Transmitter

10 standards for brain electrode-array recordings enhance reproducibility

Electrophysiology findings can vary widely from lab to lab, even among those using identical protocols. New guidelines set forth in a preprint should help.

By Elissa Welle
12 July 2024 | 5 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

Accounting for a mosaic of sex differences: Q&A with Nicola Grissom

Breaking the binary view of sex traits can enable researchers to represent the broader complexity of behavior and cognition.

By Olivia Gieger
10 July 2024 | 7 min read