ASHG 2018

Recent articles

Microscopic view of spermatozoa

Some autism mutations go undetected, new study suggests

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

By Jessica Wright
5 December 2018 | 5 min read

Massive sequencing project identifies new genetic syndromes

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

By Jessica Wright
23 October 2018 | 3 min read
Brain cells under magnification glow red, purple and blue.

Mini-brains may pin down key genes in large mutations

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.

By Jessica Wright
22 October 2018 | 3 min read
A digital drawing shows two groups of people forming large arrows, see from above.

Mutation types tied to autism converge on shared set of genes

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.

By Jessica Wright
18 October 2018 | 3 min read
A boy toddler learns to walk with an adult holding his hands.

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.

By Jessica Wright
17 October 2018 | 3 min read

Explore more from The Transmitter

Research image of four brain scans with green areas indicating Parasagittal dura volume.

Okur-Chung neurodevelopmental syndrome; excess CSF; autistic girls

Here is a roundup of autism-related news and research spotted around the web for the week of 21 October.

By Jill Adams
22 October 2024 | 2 min read
A collage illustration of a woman’s face fragmented by a mosaic of X chromosomes, lines and shapes.

Brains, biases and amyloid beta: Why the female brain deserves a closer look in Alzheimer’s research

New results suggest the disease progresses differently in women, but we need more basic science to unpack the mechanisms involved.

By Rachel Buckley
22 October 2024 | 7 min read
Illustration of two neon-toned sets of concentric circles overlapping, with bright spots where they intersect.

Are brains and AI converging?—an excerpt from ‘ChatGPT and the Future of AI: The Deep Language Revolution’

In his new book, to be published next week, computational neuroscience pioneer Terrence Sejnowski tackles debates about AI’s capacity to mirror cognitive processes.

By Terrence Sejnowski
21 October 2024 | 12 min read