Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.
Molecular Mechanisms
EphB1 controls proper long-range cortical axon guidance through a cell non-autonomous role in GABAergic cells.
COVID-19 in pregnancy: Implications for fetal brain development.
Gut enterochromaffin cells are critical drivers of visceral pain and anxiety.
Neuron-specific transcriptomic signatures indicate neuroinflammation and altered neuronal activity in ASD temporal cortex.
Glial dysregulation in human brain in fragile X-related disorders.
High-throughput molecular and connectivity autism variant phenotyping in vivo using single-cell, single-virion genomic technologies
In the current project, Arpiar Saunders and his lab plan to determine how variants in the ASD risk genes GRIN2B and SYNGAP1 alter molecular and synaptic properties of mouse somatosensory cortical circuits. To achieve this goal, they will use next-generation viral tools and high-throughput single-cell RNA sequencing that enable highly parallelized connectivity and molecular phenotyping of mouse cells expressing human alleles in the intact brain.
Targeted restoration of chromatin regulators as therapeutic interventions for autism
Chaolin Zhang and colleagues aim to develop antisense oligonucleotides for dominant haploinsufficiencies associated with autism and related neurodevelopmental conditions. In the current project, the researchers will focus on chromatin regulators that are high-confidence ASD risk genes as a proof-of-concept for such a therapeutic approach.
Neuromuscular mechanisms of motor impairments associated with autism
Modeling deficiencies in the chromatin modifying enzyme EHMT1 during human neurogenesis using multipurpose degron alleles
Mutations in chromatin modifiers are frequently observed in individuals with ASD. In the current project, Matthias Stadtfeld and colleagues aim to understand how loss of EHMT1 – a high-confidence ASD risk gene that encodes a histone methyltransferase – perturbs molecular and cellular functions during human neurogenesis. They also plan to evaluate the therapeutic potential of restoring physiological levels of this enzyme.
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