ASHG 2017

Recent articles

Boy staring at fidget spinner

Risk genes for autism overlap with those for attention deficit

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

By Nicholette Zeliadt
25 November 2019 | 4 min read
Modifier genes may enhance or diminish the effects of a mutation linked to autism.

Second ‘hits’ may explain autism mutations’ varied effects

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.

By Nicholette Zeliadt
5 October 2018 | 3 min read

Yeast assay illuminates effects of mutations in top autism gene

Mutations in the gene PTEN that are tied to autism may be less harmful than those linked to a syndrome characterized by benign tumors.

By Nicholette Zeliadt
1 June 2018 | 3 min read
Medical practitioner marking blood sample.

Mosaic mutations in sperm point to increased autism risk

More than 5 percent of mutations thought to have arisen spontaneously in a child with autism may in fact be inherited.

By Nicholette Zeliadt
23 October 2017 | 4 min read
Mother and daughter practicing writing.

Rare autism mutations linked to low intelligence

People with autism who have rare, damaging mutations tend to have low scores on intelligence tests.

By Nicholette Zeliadt
20 October 2017 | 3 min read

Explore more from The Transmitter

Violet-stained neurons in a serial transverse section from an embryonic spiny dogfish, a bottom-dwelling shark.

Digitization of ‘breathtaking’ neuroanatomy slide collection offers untapped research gold mine

Thousands of histological sections of vertebrate brains—including from spiny dogfish, turtles and more—are newly available online.

By Shaena Montanari
22 January 2025 | 3 min read
Research image of brain organoids with astroglia formation represented in green.

Personalized medicine; astroglia organoids; fast track for fragile X drug

Here is a roundup of autism-related news and research spotted around the web for the week of 20 January.

By Jill Adams
21 January 2025 | 2 min read
Illustration of clinicians, a pill bottle, a speech bubble and shadowy figures.

Neuroscientists need to do better at explaining basic mental health research

The knowledge gap between scientists, health-care professionals, policymakers and people with mental health conditions is growing, slowing the translation of basic science to new treatments. Like lawyers learning to present a case to the court, scientists should learn to educate nonscientists about their findings.

By Omar Abubaker, Karla Kaun, Eric J. Nestler
21 January 2025 | 7 min read