![](https://cdn.vanderbilt.edu/vu-web/medschool-wpcontent/sites/24/2020/08/10131517/Miletic-Lanaghan-Zeljka_photo2021.jpg)
Zeljka Miletic Lanaghan
Tennessee State University
Jeffrey Neul lab
Rett Syndrome (RTT) is a severe neurodevelopmental disorder that primarily affects girls and is caused by mutations in Methyl-CpG-Binding Protein 2 (MECP2). Nonsense mutations, which result in a truncated polypeptide or catalyze the nonsense-mediated mRNA decay (NMD) pathway, are present in 35% of individuals with RTT. Pharmacologically induced nonsense suppression therapy is one strategy for treating genetic diseases caused by a nonsense mutation. The project aims to identify the features that control pharmacological nonsense suppression efficiency in common RTT-causing mutations and investigate if the full-length MeCP2 produced following nonsense suppression will improve the disease phenotype.