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Large-scale human genetic studies have identified SCN2A as one of the leading monogenic causes of severe autism and epilepsy (Figure 1). SCN2A encodes the voltage-gated sodium channel Nav1.2, a main mediator of neuronal action potential firing. Funded by NIH and FamilieSCN2A Foundation among other agencies, a major direction in the lab is to understand the disease mechanisms of SCN2A-related autism and epilepsy. We also develop next-generation therapeutic interventions to treat these devastating diseases including small molecules, antisense oligonucleotides, as well as viruses, and CRISPR-based gene therapies.
We work on both mouse models and human induced pluripotent stem cells (hiPSCs) based neuron, microglia and brain organoid models. Technologies that are utilized in the lab include brain slice and in vivo electrophysiology (Neuropixels recording), miniscope calcium imaging on freely-moving mice, EEG, advanced genetic manipulation, immunostaining, 3D cleared brain and organoids imaging, single-cell RNA-seq, patch-seq, and mouse behaviors among others.
Figure 1: Both protein-truncating variants (PTVs) and missense variants of SCN2A are among the leading genetic cause of ASD. From Satterstrom et al, Cell 2020.
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