Tag: copy number variation

November 2018
Toddle boy having his head measured in a medical setting.
News

Brain organoid study firmly links autism mutations to RhoA

by  /  7 November 2018

A cellular pathway that helps neurons grow and move during fetal development may drive the changes in head size in some autistic people.

0 Comments
October 2018
Brain cells under magnification glow red, purple and blue.
News

Mini-brains may pin down key genes in large mutations

by  /  22 October 2018

Clusters of brain cells — so-called ‘mini-brains’ grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.

0 Comments
A digital drawing shows two groups of people forming large arrows, see from above.
News

Mutation types tied to autism converge on shared set of genes

by  /  18 October 2018

Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.

0 Comments
Modifier genes may enhance or diminish the effects of a mutation linked to autism.
News

Second ‘hits’ may explain autism mutations’ varied effects

by  /  5 October 2018

People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.

0 Comments
August 2018
Microscopic images from the eye of a fly.
News

Mutant flies reveal key gene interactions within autism deletion

by  /  20 August 2018

The absence of several interacting genes may underlie the developmental problems seen in people missing a segment of chromosome 16.

0 Comments
News

Blocking key enzyme eases memory problems, anxiety in autism mice

by  /  1 August 2018

New results implicate an enzyme called ERK in the consequences of missing a segment of chromosome 16.

0 Comments
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