skip to primary navigation skip to content
Josefine Eck
Research Staff
01223 766 166
I am currently 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 Kate 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 genetic disorders converging on presynaptic dysfunction, which, we hope will improve diagnostic yield, prognostication, and personalised support for patients and families.
CBSU publications
Wong-Spracklen, V.M.Y., Kolesnik, A., Eck, J. , Sabanthan, S., Spasic-Boskovic, O., Maw, A., BAKER, K. (2022) Biallelic CACNA1A variants – review of literature and report of a child with drug-resistant epilepsy and developmental delay, American Journal of Medical Genetics Part A, 188(11), 3306-3311 [Open Access]