A new software tool detects chromosomal alterations present in only a subset of cells in the body. This method, described 31 May in BMC Genomics, may help reveal mosaicism’s contribution to neurological disorders.
Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.
By combining bioinformatics techniques with an analysis of gene expression, researchers have identified 30 candidate genes for autism, according to a study published 28 May in Translational Psychiatry.
Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.
Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.
Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.
Parents who have one child with autism would like a genetic test to predict their next child’s risk of the disorder. But it’s not clear how well the tests work.
Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.