Research Highlights

Highlights of SFARI-funded papers, selected by the SFARI science team.

A potentially treatable form of autism caused by impaired brain transport of amino acids Gaia Novarino and Joseph Gleeson find impaired amino acid transport into brain causes ASD-like symptoms in mice, and uncover transport mutations in individuals with ASD.

Genetic mechanisms underlying physical trait differences between males and females contribute to sex bias in autism By examining SNPs from ASD datasets, Lauren Weiss finds that genetic mechanisms regulating general sex differences, such as height and weight, contribute to autism risk.

Sequencing study in a Chinese cohort confirms the importance of de novo mutations in autism By assessing a Chinese autism cohort, Evan Eicher establishes the importance of de novo mutations for conferring autism risk in both European and Chinese populations.

Predicting autism treatment outcome with imaging biomarkers Suitable biomarkers are needed to assess treatment outcomes in ASD. Pamela Ventola has developed fMRI biomarkers that allow accurate prediction of intervention success.

CASPR2 antibodies from human maternal serum mediate autism-like phenotypes in mice Betty Diamond reports on a method to isolate monoclonal brain-reactive antibodies from plasma obtained from mothers in the SSC, showing their in utero exposure can cause ASD.

Pathogenic mutations in mitochondrial DNA enriched in autism Using sequencing data from the Simons Simplex Collection, Zhenglong Gu found an enrichment of predicted pathogenic mutations in mitochondrial DNA in autism.

DIXDC1 contributes to neurodevelopmental and psychiatric phenotypes via altered Wnt signaling Benjamin Cheyette finds higher rates of DIXDCI disruptions in individuals with ASD, schizophrenia or bipolar, and DIXDC1 signaling rescue improves mouse ASD-like behaviors.

Microglia-like cells derived from human pluripotent stem cells Rudolf Jaenisch has developed a method enabling the generation of microglia-like cells from human embryonic stem cells and induced pluripotent stem cells.

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