SFARI | Topic: Molecular Mechanisms

Assessing how the autism risk gene ASXL3 regulates cortical neuronal fate

Stephanie Bielas plans to study an Asxl3 null mouse model to better understand the role that Asxl3-dependent deubiquitination activity plays in specifying neural progenitor cell transcriptional programs that regulate cortical neuronal fate.

Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids.

Understanding and reversing large protein underproduction in fragile X–associated conditions

Mutations in the FMR1 gene, which encodes the RNA-binding protein FMRP, are the most common cause of intellectual disability and autism spectrum disorder. In the current project, Ethan Greenblatt plans to leverage the genetically and biochemically tractable Drosophila oocyte system to understand the mechanism of FMRP-dependent translation. Such knowledge will help advance the development of novel diagnostics and therapies for ASD subtypes that are caused by haploinsufficiency of FMRP or downstream targets.

PsychENCODE and beyond: Transcriptomics and epigenomics of brain development and organoids.

Maternal immune activation in mice disrupts proteostasis in the fetal brain.

Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.

JOINT for large-scale single-cell RNA-sequencing analysis via soft-clustering and parallel computing.

Innate immunity at the crossroads of healthy brain maturation and neurodevelopmental disorders.

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.