SFARI | Topic: Molecular Mechanisms

Placental neurosteroids shape cerebellar development and social behaviour.

Exosomes regulate neurogenesis and circuit assembly.

Integrated single-cell and functional analysis of Dup15q syndrome

Arnold Kriegstein will apply single-cell RNA sequencing technologies to brain tissue samples from individuals with Dup15q syndrome, a genetically defined type of ASD, as well as to cerebral organoids derived from Dup15q-induced pluripotent stem cells. The goal of the project is to identify which cell types are affected by ASD during development and how this impacts mature brain circuits.

Tuning the mouse maternal immune system with human-derived bacteria to prevent neurodevelopmental abnormalities in offspring

Jun Huh will examine human-derived bacteria that can colonize the guts of pregnant mice to identify bacteria that can promote anti-inflammatory responses. Such factors could help to prevent the development of brain pathologies and behavioral phenotypes relevant to autism in offspring that can be triggered by uncontrolled inflammatory activity during pregnancy.

Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.

Oligogenic effects of 16p11.2 copy number variation on craniofacial development.

Enhancing rigor and reproducibility in maternal immune activation models: Practical considerations and predicting resilience and susceptibility using baseline immune responsiveness before pregnancy.

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.

Building phenotypic maps based on neuronal activity and transcriptional profiles in human cell models of syndromic forms of ASD

Nael Nadif Kasri will assess differences in neuronal network activity and transcriptional profiles in neural cells derived from induced pluripotent stem cells from individuals with syndromic forms of ASD, building a phenotypic map based on network activity and cellular profiles. These phenotypic maps will aid in the dissection of the underlying cellular and molecular mechanisms involved in distinct forms of ASD.