Our lab focuses on understanding the pathophysiology of neurodevelopmental disorders to develop and assess novel therapeutics. We study several disorders, which are typically monogenic, and include the following:
- MECP2-associated disorders
- Rett syndrome (RTT)
- MECP2 Duplication syndrome (MDS)
- CDKL5 deficiency disorder
- Pitt-Hopkins syndrome
- Neurofibromatosis Type I (NF1)
We primarily investigate the potential of metabotropic glutamate receptors (mGlu1-mGlu8) and muscarinic acetylcholine receptors (M1-M5) as therapeutic targets for these disorders. These receptors are amenable to small molecule therapeutic development, and as part of the Vanderbilt Center for Neuroscience Drug Discovery (VCNDD), we have access to novel tool compounds that target these receptors. In addition, we are assessing the safety of genetically targeting MECP2 for the treatment of RTT and MDS.
To test the efficacy of these tool compounds and understand the biology of these disorders, we employ a comprehensive set of approaches such as molecular biology and pharmacology, electrophysiology, and in vivo pharmacology.