Mosaicism

Recent articles

Illustration of two neurons with a shared origin point.

Cortical interneurons derive differently in human brains

Excitatory neurons and some inhibitory neurons in the adult human cortex share parents, challenging the longstanding idea that the two cell types have different origins.

By Elissa Welle
20 December 2023 | 6 min read
Two teenage girls sit next to each other on a couch, one looking at a cell phone while the other uses a tablet computer.

Turner syndrome tied to autism

Most people with the X-linked syndrome have autism traits, and about one-quarter meet diagnostic criteria for the condition.

By Emmet Fraizer
5 January 2023 | 4 min read
circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

By Emma Yasinski
16 September 2021 | 5 min read
Brain composed of legos with various legos scattered around

Patchwork mutations present a new frontier for autism research

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

By Grace Huckins
12 July 2021 | 10 min read
lab technician pipetting in dramatic light

Alternative gene-therapy approaches take aim at Rett syndrome

Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.

By Angie Voyles Askham
16 June 2021 | 7 min read
cells in a mouse brain show the mutations in green.

Molecular switch marks mosaic mutations in mice

A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.

By Chloe Williams
11 February 2021 | 3 min read
A mosaic made of different colors of maize (corn) kernels depicting DNA.

Two studies highlight role of ‘mosaic’ mutations in autism

Mutations seen in only some of the body's cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

By Charles Q. Choi
11 January 2021 | 3 min read
Adolescent has cheek swabbed

Autism, intellectual disability linked to levels of fragile X protein

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

By Laura Dattaro
26 October 2020 | 5 min read
a pattern shows a helix-like form repeating in yellow on dark background.

Machine learning flags ‘mosaic’ mutations that may contribute to autism

A new technique detects rare mutations that occur in only a subset of the body's cells.

By Tara Santora
19 February 2020 | 2 min read

Explore more from The Transmitter

Abstract illustration of a human brain.

‘Elusive Cures: Why Neuroscience Hasn’t Solved Brain Disorders—and How We Can Change That,’ an excerpt

In her new book, published today, neuroscientist Nicole Rust takes us on her personal quest to spell out the brain research community's "Grand Plan."

By Nicole Rust
10 June 2025 | 9 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Convergent effects of autism-linked genes in zebrafish; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 9 June.

By Jill Adams
10 June 2025 | 2 min read
Research image containing repeated structures, suggesting potential image manipulation.

More than two dozen papers by neural tube researcher come under scrutiny

One of the studies, published in 2021 in Science Advances, received an editorial expression of concern on 21 May, after the journal learned that an institutional review of alleged image problems is underway.

By Claudia López Lloreda
9 June 2025 | 6 min read