​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), a childhood developmental disorder caused by loss of Retinoic Acid Induced 1 (RAI1), as well as tuberous sclerosis, caused by loss of TSC1/2. Both disorders are associated with intellectual disability, ASD, and severe epilepsy. SMS is also associated with hyperphagia-mediated obesity caused by neural loss of RAI1. We will apply new molecular and neuroscience techniques to decipher the molecular and neural functions of RAI1 and TSCs. 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 on multiple 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, in the case of TSC, loss of heterozygosity (LOH) is involved. To address this question, we will use an elegant genetic approach, 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 neural development ​

​Use omic-approaches to identify molecular targets for therapy

Unbiased, systemic approaches are complementary to our effort in elucidating the neurobiology of specific ASD genes and could provide unprecedented insight. We will use cutting-edge genomic, transcriptomic, and proteomic approaches to identify therapeutic targets to correct symptoms associated with ASDs and epilepsy.

We thank our funding sources that made our work possible