Tag: copy number variation

July 2018
News

Mutations in chromosome 22 bring big risks, but only for some

by  /  16 July 2018

About 10 percent of people with a large mutation in chromosome 22 have autism, attention deficit hyperactivity disorder or intellectual disability.

0 Comments
June 2018
Week of JuneJun
4th
2018
News / Spotted

Oversold diets; big brains explained; tracking CRISPR and more

by  /  8 June 2018

Benefits of diets for autism features remain unproven, variants of the same DNA region make brains big or small, and STAT announces a new CRISPR tracker.

0 Comments
May 2018
News

Hunt for autism variants between genes comes up empty

by  /  7 May 2018

To find variants between genes that contribute to autism, researchers may need thousands more whole genomes than they have now.

0 Comments
April 2018
father and son standing on the beach during sunset
News

Some mutations tied to autism may be passed down from fathers

by  /  19 April 2018

Some children with autism inherit rare mutations in noncoding DNA from their unaffected fathers.

0 Comments
March 2018
Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).
News

Studies pinpoint key gene in region linked to autism

by  /  21 March 2018

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

0 Comments
February 2018
Short video of the words "autism" changing to "ADHD"
Features / Deep Dive

Decoding the overlap between autism and ADHD

by  /  7 February 2018

Autism and attention deficit hyperactivity disorder often coincide, but the search for common biological roots has turned up conflicting evidence.

5 Comments
child working on colorful puzzle on lightbox
News

Duplication of DNA on chromosome 7 increases risk of autism

by  /  1 February 2018

Roughly one in five children who has an extra piece of chromosome 7 also meets the criteria for an autism diagnosis.

1 Comment
January 2018
Neurons missing a part of chromosome 16 (left) are larger and have more branches than control neurons (middle); neurons with duplications of the region are small and sport short dendrites (right).
News

Lab-grown neurons showcase effects of autism mutations

by  /  15 January 2018

Neurons derived from people with mutations linked to autism display diverse abnormalities that may help explain the origins of these individuals’ features.

0 Comments
Week of JanuaryJan
8th
2018
News / Spotted

Ratio reversal; gender bender; ad accusations and more

by  /  12 January 2018

The male-dominated sex bias in autism is reversed in a related syndrome, a researcher’s gender could influence her study’s outcome, and an award-nominated ad featuring a young man with autism draws criticism.

0 Comments
December 2017
dna strand
News

Study zeroes in on key part of DNA deletion linked to autism

by  /  13 December 2017

Deletions within a specific segment of chromosome 22 may raise the risk of autism.

1 Comment
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