Genes

Recent articles

Research image comparing methods of identifying genes and biological processes linked to Alzheimer's disease.

New tool may help untangle downstream effects of autism-linked genes

The statistical approach helps scientists better control for both measured and unmeasured confounders in gene-expression data, revealing causal relationships between autism-linked genetic variants and downstream cellular effects, such as impaired neuron development.

By Giorgia Guglielmi
27 March 2025 | 5 min read
Illustration of a woman holding a pencil over a map.

Familiar autism-linked genes emerge from first analysis of Latin American cohort

The findings, detailed in a January preprint, suggest autism’s fundamental biology is the same regardless of ancestry. But questions remain.

By Laura Dattaro
20 February 2025 | 5 min read
Research image of cells lacking microexon 4.

Protein aggregates gum up ‘master regulator’ of autism-linked genes

The regulator, CPEB4, typically controls protein production for hundreds of autism-linked genes, but an alternative version of it found in autistic people forms irreversible clumps and malfunctions.

By Giorgia Guglielmi
23 January 2025 | 4 min read
A slice of a cerebellum.

Mutation in top autism-linked gene may alter eye reflex

The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.

By Charles Q. Choi
26 February 2024 | 5 min read
A research image of a mouse hippocampus

Some social issues in DYRK1A model mice stem from faulty inhibitory circuits

Alterations in inhibitory circuits and difficulties in social recognition characterize mice missing one copy of DYRK1A, a gene linked to autism.

By Giorgia Guglielmi
11 October 2023 | 4 min read
Research image of presynapses on sensory neurons in fruit flies.

UBE3A’s link to synaptic pruning bolstered by fly study

Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.

By Giorgia Guglielmi
28 September 2023 | 5 min read
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
Research image of neurons in mice.

Skewed signaling in striatum may spawn repetitive behaviors

Synaptic changes in the brain region could drive a core trait of fragile X syndrome, a new mouse study suggests.

By Holly Barker
6 September 2023 | 3 min read
Photograph of a family of rhesus macaque monkeys.

Father’s genes may drive sociability in male monkeys

The findings in rhesus macaque monkeys may provide clues to sex differences in the heredity of social behavior in people.

By Charles Q. Choi
18 August 2023 | 3 min read
Position heatmaps of mice performing a behavioral assay.

New test taps nose pokes as a proxy for social motivation in mice

Over one hour, a particularly motivated mouse poked its nose 350 times into a hole in the test chamber in the hopes of meeting a playmate.

By Holly Barker
10 August 2023 | 5 min read

Explore more from The Transmitter

Stack of papers.

Exclusive: The 23 studies the FDA based its expanded leucovorin label on

The studies include 46 people, mostly toddlers, who have cerebral folate deficiency due to variants in a folate transporter.

By Claudia López Lloreda
2 October 2025 | 6 min read
Hand holding a rubber stamp above a stack of papers.

Autism researchers ‘pleasantly surprised’ by list of NIH data project grantees, despite initial concerns

An atypical funding mechanism, truncated application timeline and opaque review process had generated concern over the quality of projects that would be selected for the Autism Data Science Initiative.

By Calli McMurray
2 October 2025 | 10 min read
Richard Frye.

Exclusive: Who is Richard Frye, the neurologist who researches and advocates for leucovorin as an autism treatment?

Frye has led two placebo-controlled trials of the folate supplement in autistic people; the first was suspended by regulators, and the other has yet to be published.

By Brendan Borrell
1 October 2025 | 11 min read

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