Predicting functionally deleterious mutations Simons Center for Data Analysis scientist Richard Bonneau develops a method to assess disease gene variants that combines sequence analysis and protein structural modeling.
Loss of the autism risk gene PTCHD1 disrupts thalamic reticular function and results in attention deficits in mice Guoping Feng and Michael Halassa create mice with global or thalamic-specific loss of the ASD-risk gene PTCHD1 to show specific roles for thalamic PTCHD1 in ASD-like behaviors.
Genetics-first approach: POGZ mutations associated with a distinct clinical subtype of autism By comparing phenotypes in 25 individuals with de novo mutations in POGZ with SSC ASD phenotypic data, Evan Eichler uncovers a distinct POGZ-ASD clinical subtype.
Autism risk variants impact a continuum of social and behavioral traits within the general population Mark Daly compares genetic data of social and communication difficulties in healthy individuals with ASD genetic data to show how risk variants lead to a behavioral continuum.
A role for the maternal interleukin-17A pathway in autism Dan Littman and colleagues use a mouse maternal immune activation (MIA) model to dissect immune pathways linking MIA with autism risk.
Adult reversal of select autism-like phenotypes in SHANK3 mutant mice Using SHANK3 conditional knock-in mice, Guoping Feng shows that adult re-expression of SHANK3 improves cellular and behavioral abnormalities, including ASD-like deficits.
CRISPR-engineered models of human microdeletion/duplication syndromes James Gusella and Michael Talkowski develop a CRISPR/CAS9 genomic method to generate microdeletions and microduplications in human iPSCs that mirror human CNV genetics.
The Autism Inpatient Collection: A resource for studying individuals severely affected by autism The Autism Inpatient Collection, directed by Matthew Siegel, enrolls individuals severely affected by autism, facilitating assessment of this under-represented group.