Erva Ghani, Royal College of Surgeons in Ireland
€36,000 over 4 years
About the Project
CDKL5 deficiency disorder (CDD) is a disorder of brain development, characterized by epilepsy and developmental delay. No specific treatments for CDD exist. This project will investigate the potential of gene regulators called microRNAs as novel therapeutic targets. MicroRNAs reduce cellular protein levels and have been linked to epilepsy and brain development. Altering their activity produces powerful therapeutic effects in mice. The project will use different techniques to measure changes to microRNAs in a mouse model of CDD, understand how microRNAs regulate levels of CDD and use drug-like molecules to manipulate microRNAs and determine if this restores brain function and improves symptoms.
It is hoped that this research will illuminate the role of miRNAs in CDD and enhance understanding of the underlying cellular and molecular mechanisms. Given that miRNA expression can be manipulated by gene targeting, knowledge gained from this research can be used to guide new therapeutic strategies to treat and prevent CDD (and possibly other rare brain disorders).