Tag: whole-exome sequencing

October 2018
News

Massive sequencing project identifies new genetic syndromes

by  /  23 October 2018

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

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A boy toddler learns to walk with an adult holding his hands.
News

Some ‘autism genes’ show stronger ties to related conditions

by  /  17 October 2018

The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.

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Juan Pablo Quintero, Sara Quintero, Soledad Quintero, Rosario Quintero, Yeison Quintero, pose for a group portrait in Ricaurte, Valle del Cauca, on July 28, 2018.
Features / Deep Dive

Unlocking the secrets of fragile X in Colombia

by  /  10 October 2018

A remote Colombian town is home to the world’s largest cluster of people with fragile X syndrome. Scientists are learning from them — and trying to help.

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DNA helix with two mutations glowing blue on the helices. Rebecca Horne
News

Study links subset of genetic variants to autism, intellectual disability

by  /  3 October 2018

Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.

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July 2018
News

Studies unveil hidden ties between epilepsy gene and autism

by  /  23 July 2018

Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.

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News

New approach predicts impact of mild mutations in autism

by  /  11 July 2018

A new method enables researchers to assess the biological impact of thousands of subtle mutations.

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May 2018
Boy examining string in the grass
News

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.

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April 2018
mutations in their mitochondrial genome
News

Mounting evidence links mitochondrial DNA to autism

by  /  5 April 2018

Genetic variants that affect mitochondria, the organelles that power cells, may increase the risk of autism.

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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.

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October 2017
Week of OctoberOct
2nd
2017
News / Spotted

Cannabis candidate; omega add-on; oxytocin control and more

by  /  6 October 2017

A cannabis gel may ease features of fragile X syndrome, omega fatty acids show promise for autism in two trials, and oxytocin reinforces social behaviors through the brain’s reward pathway.

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