Family affairs: In a new paper, researchers compared the genomes of 189 people from 51 families to search for genetic variation linked to autism. Using phased genome assemblies to generate long-read sequencing data, the investigators identified three likely variants: TBL1XR1, MECP2 and SYNGAP1. They also pinpoint several de novo candidates and inherited homozygous structural variants […]
The balance of common and rare genetic variation linked to autism is different in people of African descent than in those of European descent, according to the first analysis of a large cohort of autistic African Americans and their families. Polygenic scores for autism that are derived largely from people of European ancestry have limited […]
Research summary Analysis of the proteins in the stool of autistic children revealed altered levels of specific gut microbes and enzymes that metabolize carbohydrates. Journal of Proteomics Two commercially available wireless heart rate trackers are convenient and reliable for use with autistic children. Autism research Nutritional problems in children, especially those that persist into the […]
Illustration by Laurène Boglio Hello and welcome to the Spectrum community newsletter. In this issue we come to you with social media thoughts from # ASHG21, which took place (again) virtually last week – which several participants complained about online. According to Twitter chatter, the posters were particularly problematic. For one, the sessions did not […]
Joseph Cubells Associate professor, Emory University Evan Eichler Professor, University of Washington James Sutcliffe Associate professor, Vanderbilt University Huda Zoghbi Director, Jan and Dan Duncan Neurological Research Institute Steve Warren, a giant in the field of human genetics, died in June at age 67. In the realm of autism research, he may be best known […]
Protective function: PTEN pups from wild-type mice (left) have more neurons (brown) than those from PTEN mothers (right). Women who are genetically predisposed to inflammation may be more likely to have children with characteristics of autism, according to a new study in mice. Previous work suggests that inflammation in a pregnant woman – due to […]
