A biobank of more than 300 genetically diverse human stem cells has helped reveal the biological mechanisms underlying four neurodevelopmental conditions. Entries include the donors’ clinical details and data from brain imaging, histology, whole-exome sequencing and single-cell transcriptomics, highlighting both overlap and divergence in the phenotypes of genetically diverse conditions. The resource is “second to […]
Molecular dance: A protein called Necdin plays a role in SYNGAP1 deficiency syndromes such as Prader-Willi syndrome, according to a new study. Investigators show that Necdin helps stabilize SYNGAP protein, and depletion of Necdin in mice leads to decreased levels of SYNGAP protein, reduced sociability and morphological changes in prefrontal cortex neurons. The paper adds […]
About five years ago, when his younger twin brothers turned thirty, Giacomo Vivanti wondered how the two, both of whom suffer from autism, would fare in middle and old age. In particular, he wondered if they might be prone to developing age-related neurological disorders. His brothers showed no signs of illness or cognitive deterioration, but […]
Illustration by Laurène Boglio Welcome to this month’s edition of the By the Numbers newsletter! At Spectrum, we do our best to summarize the latest in autism research – and sometimes the best summary comes in the form of a chart or map. In this newsletter we put interesting new research results in a nutshell, […]
Earlier this month, researchers reported unpublished preliminary results from a pilot drug study for ADNP syndrome, a rare genetic disorder often accompanied by autism. During the nearly one-year study, 10 children, ages 6 to 12, took a low dose of ketamine. The drug is approved for the treatment of depression and is used in higher […]
