ELENI NOTARAS

The purpose of my project is to characterise a patient mutation occuring in the SNAP25 gene. Ultimately, the aim of the project is to develope a targetted gene therapy to treat disease caused by this mutation. The SNAP25 gene enodes one of the key proteins which complex to form the molecular machinery necessary for neurotransmitter release from brain cells. I will investigate the effects of the patient SNAP25 mutation in a 3D brain organoid model. Combining molecular, electrophysiological, and imaging techinques, I aim to devleope an understanding of how SNAP25 dysfunction contributes to pathology, and to validate a corrective treatment.