Research
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The molecular, cellular, and circuit mechanisms underlying autism, neuropsychiatric disorders, and epilepsy
We currently focus on Smith-Magenis syndrome (SMS), a childhood brain disorder associated with intellectual disability, epilepsy, obesity, autism, and neuropsychiatric features. SMS is caused by 17p11.2 deletion or loss of the Retinoic Acid Induced 1 (RAI1) gene, providing an excellent genetic entry point to understand how copy number variations (CNVs) control brain development and function. The Huang lab uses genetic, molecular, cell biological, and modern stem cell and neuroscience techniques to (1) determine the function of Rai1 and (2) develop disease-modifying therapies. Here are some questions we are interested in:
- How does Rai1 dosage imbalance in different neuronal subtypes drives molecular and behavioral deficits?
- How does 17p.11.2 and RAI1 haploinsufficiency affect neuronal morphogenesis, synaptic transmission, and neuronal activity?
- What are the molecular and cellular function of RAI1-containing chromatin complex?
- What regulates RAI1 expression in different cell types?
- What are the Rai1 upstream and downstream molecules that can serve as therapeutic targets for SMS?
For our published work, please visit the PUBLICATIONS page