Skip to main content

Spectrum: Autism Research News

Tag: de novo mutations

March 2019

New maps plot hot spots of diversity across human genome

by  /  29 March 2019

A pair of maps that depict variation in the human genome may help reveal the genetic roots of autism.

0 Comments
February 2019
Portrait of Ivan Iossifov

Webinar: Ivan Iossifov discusses genetic variants linked to autism traits

27 February 2019

Watch the complete replay of Ivan Iossifov discussing the genetic basis of autism’s features.

0 Comments
January 2019
illustration shows woman under umbrella, with genes falling like rain

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

This article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]

0 Comments
December 2018

Massive analysis refines map of autism’s genetic roots

by  /  19 December 2018

The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.

0 Comments

Analysis spotlights mutations in ‘dark’ regions of the genome

by  /  14 December 2018

Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.

0 Comments
microsopy of human sperm

Study suggests Rett syndrome doesn’t always arise spontaneously

by  /  13 December 2018

Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

0 Comments
Microscopic view of spermatozoa

Some autism mutations go undetected, new study suggests

by  /  5 December 2018

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

0 Comments
November 2018

Some autism genes may be especially vulnerable to mutations

by  /  7 November 2018

A small number of autism genes are located in fragile regions of the genome — those prone to breaking when cells copy DNA.

0 Comments
June 2018
Week of JuneJun
18th
2018

New health handbook; evidence imbalance; social motivation and more

by  /  22 June 2018

The latest manual of international disease codes is out, a franchise claims to have an autism cure, and two reports diverge on the validity of the social-motivation hypothesis.

0 Comments
May 2018
Boy examining string in the grass

Autism, developmental delay can have distinct genetic origins

by  /  11 May 2018

Mutations in certain genes contribute specifically to autism, and others only to developmental delay.

0 Comments