Miss Josefine Eck

I am a Research Assistant at the MRC Cognition and Brain Sciences Unit (MRC CBU), 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. I am primarily involved in participant recruitment, data collection, and analysis for the Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin (BINGO) project. In this project, we aim to better understand the phenotypic spectrum of monogenic disorders converging on presynaptic dysfunction, which we hope will improve diagnostic yield, prognostication, and personalised support for patients and families affected by rare disease.