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Spectrum: Autism Research News

Tag: genetic testing

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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February 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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January 2021
Molecular model of histone protein which wraps up DNA strands.

New condition hints at structural protein’s role in autism

by  /  22 January 2021

Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.

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