X chromosome

Accounting for a mosaic of sex differences: Q&A with Nicola Grissom

Breaking the binary view of sex traits can enable researchers to represent the broader complexity of behavior and cognition.

By Olivia Gieger
10 July 2024 | 7 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.
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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

Silenced X chromosome genes reawaken in new mouse model

The new animal line could accelerate the discovery of gene-activating therapies for the autism-linked condition Rett syndrome.

By Holly Barker
3 March 2022 | 4 min read
Dr. Huda Zoghbi portrait
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Huda Zoghbi: Taking genetic inquiry to the next level

Over the course of a career spanning more than three decades, Huda Zoghbi has won almost every major biology and neuroscience research award that exists. More than 20 years since she discovered the gene behind Rett syndrome, she remains laser focused on unlocking the condition’s secrets and finding effective treatments.

By Rachel Zamzow
25 June 2021 | 13 min read
lab technician pipetting in dramatic light
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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
Brain images color-coded to show structural changes in autism.

Gene expression maps reveal origins of brain changes from autism mutations

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

By Angie Voyles Askham
4 December 2020 | 5 min read
Ralf Schmid, the research director in Neurodevelopmental diseases at the Gene Therapy Program Orphan Disease Center, loads replicated mouse dna into wells in the gel before applying electric current to test the viability of the dna.
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A quest for Quincy: Gene therapies come of age for some forms of autism

A gene therapy for Angelman syndrome stands at the forefront of efforts to treat autism-linked conditions that stem from single genes.

By Lydia Denworth, Brendan Borrell
14 October 2020 | 26 min listen

Method unravels Rett mutation’s effects on specific brain cells

A new technique may reveal how mutations on the X chromosome alter various types of cells in the brain.

By Maris Fessenden
11 January 2019 | 2 min read

New mouse model paves way for Rett syndrome treatments

A new line of female mice may enable researchers to test gene-based therapies for Rett syndrome.

By Jessica Wright
7 September 2018 | 3 min read
Deleting DNA repeats from fragile X neurons restores expression (right, red) of the gene silenced in the syndrome.

CRISPR tweak fixes genetic flaw in fragile X syndrome

A modified version of the genetic engineering tool CRISPR may restore expression of the gene mutated in fragile X syndrome.

By Jessica Wright
29 March 2018 | 4 min read

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Research image of neurons in the fly’s ventral nerve cord.

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Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.

By Laura Dattaro
26 July 2024 | 7 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read

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