Timothy syndrome

Recent articles

Research image of an assembloid.

Organoids and assembloids offer a new window into human brain

These sophisticated 3D cultures reveal previously inaccessible stages of human brain development and enable the systematic study of disease genes.

By Sergiu P. Pasca
31 March 2025 | 7 min read
Research image of antisense oligonucleotides.

RNA drug corrects calcium signaling in chimeric model of Timothy syndrome

The drug, tested in rats that have human neurons, could enter clinical testing as early as next year, researchers say.

By Katie Moisse
24 April 2024 | 5 min read
A transplanted human organoid labeled with a fluorescent protein in a section of the rat brain.

Human cortical organoids forge functional circuits in rat brains

The transplanted cells integrate into living animals’ neural circuitry and influence behavior.

By Peter Hess
12 October 2022 | 4 min read

Mini-brains bare tortuous trek of cells in Timothy syndrome

A new technique for building a ‘brain in a dish’ reveals how neurons move to their proper places during fetal development.

By Sarah DeWeerdt
23 June 2017 | 3 min read

Mighty element plays major part in autism

Probing the function of a protein in a calcium signaling pathway may lead to a diagnostic test for autism and a path toward treatments.

By John Jay Gargus, Galina Schmunk
18 April 2017 | 5 min read
Spectrum from The Transmitter.

Rising Star: Sergiu Pasca, scientist at play

Sergiu Pasca was among the first to model autism with neurons from affected individuals, a feat that could reveal the biochemical roots of some forms of autism.

By Sarah DeWeerdt
19 February 2015 | 9 min read
Spectrum from The Transmitter.

Rho family of enzymes at crossroads of autism

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell's structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

By Alan Packer
12 March 2013 | 10 min read
Spectrum from The Transmitter.

Molecular mechanisms: Timothy syndrome neurons defective

Neurons from people with Timothy syndrome, and from mouse and rat models of the disorder, have defects in the growth of their branches, according to a study published 13 January in Nature Neuroscience.

By Veronique Greenwood
12 March 2013 | 2 min read
Spectrum from The Transmitter.

Exploring enigmatic links between mitochondria and autism

Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.

By Douglas Wallace
8 January 2013 | 9 min read
Spectrum from The Transmitter.

Allen Institute aims to mass-produce stem cells

The nonprofit Allen Institute for Brain Science in Seattle plans to make neurons from stem cells derived from people with a number of different disorders. The resource, described 25 September at a conference in New York, will be available to all scientists.

By Emily Singer
5 October 2012 | 5 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