SFARI | SFARI Research Highlights

Christian Luscher and Camilla Bellone show that ASD- model mice with reduced SHANK3 in the VTA have altered excitatory synapse transmission and impaired social behaviors.

Brain connectivity patterns that predict social communication skills

Using fMRI in typically developing children, Vinod Menon finds one’s mother’s voice activates a network of brain regions predictive of a child’s social communication skills.

Shared sets of genes downregulated in autism and schizophrenia

Dan Arking compares large-scale transcriptome datasets from neurotypical individuals and those with autism, schizophrenia and bipolar disorder.

Low-cost sequencing method for genomic copy number analysis

Michael Wigler and Dan Levy develop a new fragmentation and sequencing method for CNV analysis that generates high-resolution CNV data at lower cost than traditional analyses.

Seizures in an Angelman syndrome mouse model result from the loss of UBE3A specifically in GABAergic neurons

Benjamin Philpot shows that seizure susceptibility in an Angelman syndrome mouse model results from the specific loss of UBE3A from GABAergic, but not glutamatergic, neurons.

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.