Macrocephaly

Recent articles

Research image of two fluorescent-stained organoids.

CRISPR gives autism-linked genes a boost, rescues functioning

A modified form of the gene-editing tool increases the expression of CHD8 and SCN2A, showing potential for autism therapies.

By Giorgia Guglielmi
23 May 2024 | 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
Composite research image of organoids at several stages of development.

Genetic background sways effects of autism-linked mutation

Experiments offer clues to why certain mutations are associated with autism in some people and not others.

By Charles Q. Choi
18 May 2023 | 4 min read
A white mouse, brown mouse and black mouse stand inside a wooden circle against a blue background.

CHD8 mutation in 33 mouse strains yields range of traits

The findings put genetic background forward to help explain autism’s heterogeneity.

By Peter Hess
3 February 2023 | 5 min read
Geometric black-and-white brain model over a grid.

Excess of ‘don’t eat me’ cell signals may drive brain enlargement in autism

The signal, called CD47, is disrupted in autistic people who have a larger-than-average head.

By Peter Hess
22 November 2022 | 4 min read
Three scans of zebrafish brains.

Zebrafish point to new gene involved in brain overgrowth, autism

The gene, YTHDF2, has not previously been linked to autism.

By Katharine Gammon
1 November 2022 | 2 min read
A woman in a lab coat types at a computer.

New diagnostic code for PTEN syndrome may spur research

The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.

By Nicholette Zeliadt
3 October 2022 | 4 min read

Different forms of autism have opposite problems with brain precursor cells

The cells’ altered proliferation rates hint at ways to diagnose and potentially treat autism earlier.

By Charles Q. Choi
10 June 2022 | 4 min read
Three views of zebrafish.

Novel gene linked to brain size in autistic people

The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.

By Laura Dattaro
16 May 2022 | 2 min read
organoids in early stages of development.

Organoids show how mutations in top autism gene may lead to brain overgrowth in people

The loss of CHD8, a top autism gene, speeds up the production of certain neurons and leads to overgrowth in spheres of cultured brain cells.

By Peter Hess
19 April 2022 | 3 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
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