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

Pixelated human brain scans showing the distribution of mitochondria.

Mitochondrial ‘landscape’ shifts across human brain

Evolutionarily newer regions sport mitochondria with a higher capacity for energy production than older regions, according to the first detailed map of the organelles in a tissue slice, adding to mounting evidence that the brain features a metabolic gradient.

By Claudia López Lloreda
25 April 2025 | 6 min read
A clinician holds a clipboard while someone else sits on a couch.

Expediting clinical trials for profound autism: Q&A with Matthew State

Aligning Research to Impact Autism, a new initiative funded by the Sergey Brin Family Foundation, wants to bring basic science discoveries to the clinic faster.

By Lauren Schenkman
24 April 2025 | 8 min read
Illustration of astrocytes in a petri dish.

This paper changed my life: Shane Liddelow on two papers that upended astrocyte research

A game-changing cell culture method developed in Ben Barres’ lab completely transformed the way we study astrocytes and helped me build a career studying their reactive substates.

By Shane Liddelow
23 April 2025 | 6 min read