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Spectrum: Autism Research News

Tag: genetic testing

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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Patchwork mutations present a new frontier for autism research

by  /  12 July 2021

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

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May 2021
DNA helix inside the human body

Autism genetics, explained

by  /  28 May 2021

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

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Computer screen reflection in spectacles of DNA profile, close up of face

New ranking system flags clinically relevant ‘autism genes’

by  /  5 May 2021

A novel method to evaluate the strength of the evidence linking autism to specific genes could reveal which ones are most useful to screen for.

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March 2021
Street view in Ricuarte, Colombia

Colombia lags behind in fragile X syndrome testing, diagnosis

by  /  10 March 2021

People with fragile X syndrome in Colombia are diagnosed at age 27, on average, according to the first study to assess diagnosis in the country. By comparison, the average age of fragile X diagnosis in the United States is younger than 4.

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