Timothy syndrome

Recent articles

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

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

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
Illustration of pyramidal neurons against a deep blue background.

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

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

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

Rodent roundup

SAGE Labs has announced a new partnership with the autism science and advocacy organization Autism Speaks to fund the creation of three new rat models of autism.

By Virginia Hughes
10 August 2012 | 2 min read

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Inflammation in glia and the loss of certain inhibitory cells may kick off a disease cascade decades before diagnosis.

By Angie Voyles Askham
23 October 2024 | 8 min read
Research image of four brain scans with green areas indicating Parasagittal dura volume.

Okur-Chung neurodevelopmental syndrome; excess CSF; autistic girls

Here is a roundup of autism-related news and research spotted around the web for the week of 21 October.

By Jill Adams
22 October 2024 | 2 min read
A collage illustration of a woman’s face fragmented by a mosaic of X chromosomes, lines and shapes.

Brains, biases and amyloid beta: Why the female brain deserves a closer look in Alzheimer’s research

New results suggest the disease progresses differently in women, but we need more basic science to unpack the mechanisms involved.

By Rachel Buckley
22 October 2024 | 7 min read