Miss Josefine Eck

I am a first-year graduate-entry medical student at St Edmund's College. I previously worked as a research assistant at the MRC Cognition and Brain Sciences Unit, University of Cambridge. I joined the Genomic Disorders and Cognitive Development Group led by Dr Kater Baker during my graduate degree in Basic and Translational Neuroscience early 2022. In my previous research project, we aimed to better understand the phenotypic spectrum of monogenic disorders converging on presynaptic dysfunction to improve diagnostic yield, prognostication, and personalised support for patients and families affected by rare disease. In the future, I aspire to continue my research career alongside clinical practice. By bridging the gap between research and clinical practice, I hope to contribute to advancements in patient care and medical knowledge.