Multimedia / Podcasts
Spectrum Stories: The benefits of genetic testing in autism
/
Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.
Tag: whole-exome sequencing
March 2019
February 2019
Features / Deep Dive
Europe’s race to ramp up genetic tests for autism
/
Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.
0 Comments
News
Analysis pinpoints genes linked to autism, developmental delay
/
An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.
0 Comments
January 2019
Features / Deep Dive
Revelando los secretos del síndrome X frágil en Colombia
/
Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.
0 Comments
Features / Deep Dive
Why genetic tests matter for autistic people
/
Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.
0 Comments
October 2018
News
Massive sequencing project identifies new genetic syndromes
/
The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.
0 Comments
News
Some ‘autism genes’ show stronger ties to related conditions
/
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.
0 Comments
Features / Deep Dive
Unlocking the secrets of fragile X in Colombia
/
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.
0 Comments
News
Study links subset of genetic variants to autism, intellectual disability
/
Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.
0 Comments
July 2018
News
Studies unveil hidden ties between epilepsy gene and autism
/
Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.