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The Huang lab is interested in studying the molecular, cellular, circuit, and behavioral functions of genes involved in autism spectrum disorders (ASDs) and epilepsy. We are currently focusing on Smith-Magenis Syndrome (SMS) and Tuberous Sclerosis (TSC), childhood developmental disorders caused by loss of Retinoic Acid Induced 1 (RAI1) and TSC1/2, respectively. Both disorders are associated with intellectual disability, ASD, and severe epilepsy. We apply modern molecular technique and neuroscience tools to decipher the molecular and neural functions of Rai1 and Tsc2. Currently, we are interested in the following areas:
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How do ASD-risk genes impair neural activity, wiring, and circuit function? To answer this question, we will use modern neuroscience technologies including electrophysiology, calcium imaging, viral-mediated circuit tracing, whole brain clearing and imaging, optogenetic, and neurobehavioral assays to study how ASD-risk genes alter neural functions from molecular to behavioral levels |
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How do somatic mosaic mutations cause autism and epilepsy? It is clear that many ASDs are caused by somatic mosaic mutations, such as how loss of heterozygosity (LOH). To understand how mosaic gene deletions drive ASD/epilepsy, we use an elegant genetic approach invented by my postdoc lab at Stanford, mosaic analysis of double markers (MADM), to perform single-cell analysis and dissect the cell-autonomous v.s. non-cell-autonomous functions of ASD-risk genes in neuronal development and dysfunction |
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Identify molecular targets to treat ASDs associated with gene dosage imbalance
There are >600 human disorders associated with decreased gene expression (haploinsufficiency). We use cutting-edge genomic, transcriptomic, and proteomic approaches to identify therapeutic targets to correct symptoms associated with gene dosage imbalance to treat ASDs and epilepsy. Potential therapeutic targets include protein stability modifiers, promoters, and downstream targets of the disease-causing genes. |
We thank our funding sources that made our work possible
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