Skip to main content

Spectrum: Autism Research News

Tag: genetic testing

July 2021

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.

0 Comments
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.

1 Comment
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.

0 Comments
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.

0 Comments
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.

0 Comments
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.

0 Comments
Illustration shows the hands of researchers selecting parts of a DNA helix for secure shredding.

‘Sanitizing’ functional genomics data may prevent privacy breaches

by  /  8 January 2021

A new technique for masking portions of raw genomic data increases shareability without sacrificing privacy.

0 Comments
December 2020
White lab mouse sitting in a gloved hand.

Notable papers in autism research, 2020

by  /  23 December 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

0 Comments
Paper DNA with one torn base to signify a point mutation.

Analysis links 98 genes to neurodevelopmental conditions

by  /  10 December 2020

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

0 Comments
October 2020
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.

A quest for Quincy: Gene therapies come of age for some forms of autism

by ,  /  14 October 2020

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

0 Comments