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Spectrum: Autism Research News

Tag: genetic testing

April 2022
Illustration of colorful compass

Ethical gaps in autism genetics: A conversation with Holly Tabor

by  /  29 April 2022

Genetics research has largely failed to generate concrete benefits for autistic people, and its values and goals are due for reassessment, Tabor says.

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Book cover conceptual illustration of chromosome superimposed with genetic tree.

A whisper of autism: Fragile X carriers and the autism phenotype

by  /  21 April 2022

Among people who carry the fragile X premutation, about 14 percent of boys and 5 percent of girls meet the criteria for autism, but the ‘broad autism phenotype’ may be far more common.

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February 2022

Top autism candidate gene tied to newly identified syndrome

by  /  17 February 2022

Mutations in the autism-linked gene PAX5 underlie a range of traits, including developmental delay, intellectual disability, seizures and autism.

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January 2022

Reimagining the newborn screening system: Q&A with Don Bailey

by  /  27 January 2022

The current system to approve genetic and metabolic conditions for newborn screening can’t keep pace with research on new therapies. Don Bailey wants to bring it up to speed.

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November 2021
Dr. Shafali Jeste portrait with a vibrant fuschia background.

Shafali Jeste: Early autism meets its match

by  /  30 November 2021

Shafali Jeste has spent the bulk of her scientific career searching for biological markers of autism. Her goal: to improve lives through early diagnosis and speedy testing of therapies.

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October 2021
Illustration: a 3D DNA molecule sits on a gridded background, with yellow paper rays arrayed around it.

Subset of autism cases linked to mutations in noncoding genome

by  /  20 October 2021

Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.

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September 2021
circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

by  /  16 September 2021

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

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August 2021
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

by  /  17 August 2021

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

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Colorful illustration of child's brain with electrodes connected EEG wave patterns, DNA strand, and playing siblings.

Connecting autism-linked genetic variation to infant social behavior

by ,  /  10 August 2021

Integrating genetic analyses into studies of babies’ brain development could help us understand how autism-related genes contribute to autism traits.

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July 2021
Colorful, playful illustrated scene of ewborns on a conveyor belt moving past researchers holding a long, long list.

The push to screen newborns for rare autism-linked genetic conditions

by  /  28 July 2021

As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.

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