SFARI | Topic: Genetics

Delineating neurodevelopmental causal paths to autism symptoms in infancy

Meaburn and Jones will test causal paths between ASD genetic risk and disruptions in the brain systems underpinning social attention, and examine how candidate protective environmental factors might moderate genetic risk.

TiSAn: Estimating tissue specific effects of coding and non-coding variants.

Exonic mosaic mutations contribute risk for autism spectrum disorder.

Gene disrupting mutations associated with regression in autism spectrum disorder.

Contributions of rare biallelic recessive mutations in autism

Yu will leverage genomic data from SPARK, SSC and other large ASD cohorts to catalog biallelic/recessive ASD mutations, analyze phenotypic correlates and provide novel mechanistic insights.

Interactions between WGS variation and polygenic risk in ASD

Hilary Coon’s laboratory aims to further our understanding of the unknown genetic liability in ASD. Coon will provide a comprehensive characterization of whole genome sequence (WGS) data in 1138 Simons Simplex Collection families using novel genetic mutational analyses and behavioral classification measures. By stratifying families/probands into behavioral subsets and using background genetic risk to elucidate new causal WGS risk variants within these subsets, Coon aims to uncover new genetic ASD risk variants.

Mitochondrial DNA mutations in autism spectrum disorder

Gu will assess the contribution of mtDNA mutations to ASD by examining whole-genome sequencing SSC data and using maternal and fetal samples collected in the Boston Birth Cohort.

Interactive effects of prenatal antidepressant exposure and likely gene disrupting mutations on the severity of autism spectrum disorder

Post-zygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.