Kyle Kai-How Farh and Stephan Sanders developed a deep-learning method to predict risk mutations that affect mRNA splicing and contribute substantially to neurodevelopmental disorders.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Vinod Menon and colleagues report that a difference in the activation of a voice-processing network comprising reward and salience detection systems is a distinguishing feature of autism.
Largest genome-wide association study yields common variants associated with risk of autism Mark Daly and colleagues report the results of a large genome-wide association meta-analysis of more than 18,000 individuals with ASD, including the newly genotyped Danish iPSYCH cohort.
Meta-analysis of de novo mutations yields longer list of risk genes for neurodevelopmental disorders Evan Eichler and colleagues performed a meta-analysis of de novo mutations from individuals with ASD, intellectual disability or developmental delay and found new risk genes for neurodevelopmental disorders.
Large-scale SSC whole-genome sequencing data key to identifying statistically significant de novo noncoding variation in autism Stephan Sanders and colleagues used a machine learning approach to analyze whole-genome sequencing data from more than 1,900 SSC families and found that de novo noncoding variants in distal regions of promoters confer risk of ASD.
Alterations in neuronal excitability are compensatory changes, not causal effects, in autism Dan Feldman and colleagues analyzed four mouse models of autism and found that alterations in the excitation-inhibition ratio may serve as a homeostatic mechanism to prevent network hyperexcitability.
Alternations in network communication, not synaptic dysfunction, linked to behavioral alterations in fragile X syndrome Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.
Shared alterations in gene expression networks mirror genetic risk across neuropsychiatric disorders In comparing gene expression profiles and SNP risk across psychiatric disorders, Michael Gandal, Daniel Geschwind and colleagues found that shared genetic risk manifests in alterations in gene networks.
Alterations in cellular pH gradients cause defects in neuronal communication and autism-related behaviors in mice lacking NHE9 Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.
Male, but not female, 16p11.2 deletion mice show deficits in reward learning By assessing the 16p11.2 deletion autism mouse model, Ted Abel and colleagues uncover male-specific vulnerabilities in striatal signaling and reward function.