Naiem Issa, MD, PhD
University of Miami Leonard M. Miller School of Medicine
Sturge-Weber Syndrome (SWS) is a rare disease where a mutation causes abnormal capillary malformations affecting the skin, eyes, and brain leading to disfiguring skin changes, visual disturbances, as well as seizures and intellectual disability. A pharmacologic treatment at the root of SWS, the GNAQ (Gq) protein, is in critical need. Current drug development efforts have been focused on targeting proteins downstream of Gq. However, there is no small molecule drug that directly targets the Gq mutation causing SWS.
We discovered the drug NTI-001 to be the first small molecule inhibitor of Gq. This is a critical and historic milestone for not just SWS but also for G protein drug discovery at large as this is first-in-class and will serve as the framework for future drug discovery endeavors. Our proposal is to further assess NTI-001 as an inhibitor for the SWS-specific mutant of Gq known as the Gq R183Q mutant.
This project was funded by a 2021 PeDRA Research Grant.