Alex Wykes

Developmental and epileptic encephalopathies (DEEs) are rare disorders that impact neural development and function, resulting in debilitating symptoms such as seizures, delayed development, impaired motor activity, cognitive deficits, and difficulty communicating. Although many DEEs have a clear genetic basis, these conditions are complex and remain poorly understood. As a result, current treatment options for DEEs are severely limited, primarily targeting symptom management without correcting the underlying biology. My research aims to provide deep insights into the pathophysiology of DEEs and leverage this understanding towards improved diagnostic and therapeutic outcomes, with a particular focus on Rett syndrome (caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene) and syntaxin-binding protein 1 (STXBP1/MUNC18-1)-related conditions. Using high-throughput “omics” technologies, our group is gaining a wholistic understanding of DEE biology and identifying novel disease drivers, biomarkers, and potential therapeutic targets. We are also developing new gene therapy approaches for highly targeted, safe, and effective restoration of healthy gene function to prevent or reverse the symptoms of DEEs. Through these efforts, our research is addressing the critical need for therapeutic options that substantially improve outcomes and quality of life for patients, their carers, and wider-community.