The overall goal of Xin Tang’s project is to yield insights into the molecular programs that lead to reduced KCC2 gene expression in neurons from individuals with autism and to consequently develop mechanism-guided drugs that restore KCC2 gene expression and ultimately reverse symptoms of the condition.
In this pilot study, Pierre Vanderhaeghen and his team aim to explore the intricate connections between ASD, mitochondrial function, and human neuronal development, with a specific focus on developmental timing. Innovative tools, including an in vitro model for studying mitochondrial morphology, dynamics, and function and an in vivo xenotransplantation model of human cortical neurons, will be used to achieve this. The investigation seeks to understand how mitochondrial dynamics and metabolism contribute to the pathology of ASD-linked mutations in genes such as MECP2 and SYNGAP1.
New phenotypic data from Simons Searchlight participants were recently added to SFARI Base. This release includes data from individuals with 94 gene changes and 15 copy number variants known to be connected to autism.
Millie Rogers is a mentor in the 2024 SURFiN program. They are a doctoral candidate in Julia Dallman's lab at the University of Miami. Rogers holds a bachelor’s degree in biology from the University of Florida. Their research focuses on genetic engineering and molecular techniques to study SYNGAP1 expression, activity and regulation in zebrafish models. Rogers is the recipient of the University of Miami’s Doctoral Research Grant and the Outstanding Teaching Award from the Department of Biology.
One of the challenges in assessing rodent models of autism/intellectual disability is linking specific genetic alterations to changes in neural function and behavior. Paul Dudchenko plans to address this challenge by using the head direction cell system — comprised of neurons that encode direction — to characterize rigid and flexible neural coding in Fmr1, Grin2b and Syngap1 knockout rats. This characterization will provide rich data on both the neural systems and the behavioral capacities of these three rodent models.
New Simons Searchlight data were recently added to SFARI Base. The data released included phenotypic data from individuals with 16p11.2 copy number variant (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.
New zebrafish lines with mutations in the high-confidence autism risk genes DYRK1A and GRIN2B have been added to SFARI resources.
New phenotypic data from Simons Searchlight participants were recently added to SFARI Base. This release includes data from individuals with 59 gene changes and nine copy number variants known to be connected to autism.
On March 25 and 28, 2022 SFARI hosted a workshop to explore the role of mitochondria in ASD risk. The workshop brought together experts in mitochondrial research spanning cellular, molecular, genetic, clinical and pharmacological areas and provided points for discussion on how to move this research forward.
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.
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