Research
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The molecular, cellular, and circuit mechanisms underlying autism, neuropsychiatric disorders, and epilepsy
We are broadly interested in neurodevelopmental disorders with a focus on Smith-Magenis syndrome (SMS), a genomic 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 molecular and neurobiological functions of RAI1/17p11.2 deletions, and (2) develop disease-modifying stem cell, drug, and gene therapies to reverse neurodevelopmental disorders. Here are our current interests:
Molecular and Cellular Pathogenic Mechanisms of Neurodevelopmental Disorders:
Molecular and Cellular Pathogenic Mechanisms of Neurodevelopmental Disorders:
- How does gene dosage imbalance affects molecular and cellular aspects of neuronal development and function?
- What are the neurobehavioural and circuit function of RAI1-containing chromatin complex?
- Building novel disease models of neurodevelopmental disorders
- How to correct disrupted molecular signaling pathways and reverse symptoms of neurodevelopmental disorders?
- How to increase the expression levels of disease-causing genes at transcriptional and post-translational levels?
For our published work, please visit the PUBLICATIONS page