Our lab is interested in the role of protein mislocalisation in neurological disorders, with a particular focus on genetic neurodegenerative diseases caused by defects in protein trafficking. We employ advanced mass spectrometry-based proteomics, microscopy, and functional cell biology to study cellular models of disease, including those based on stem cell-derived neurons. We work closely with clinical and translational scientists to translate basic cell biology discoveries into diagnostic and therapeutic strategies, with the ultimate aim of benefiting rare disease patients.

I am a Lecturer in Cell Biology in the Division of Molecular and Cellular Function, in the School of Biological Sciences, at the University of Manchester. I am a cell biologist who combines expertise in proteomics and microscopy to study the mechanisms of rare neurological disorders caused by defects in protein trafficking.

I studied Genetics at the University of Glasgow, with an intercalated year in industry at AstraZeneca. While studying in Glasgow, I became fascinated by the molecular puzzle that links changes in the sequence of DNA to the dysregulation of cellular function in genetic diseases. I completed my PhD under the supervision of Prof Margaret (Scottie) Robinson at the Cambridge Institute for Medical Research, at the University of Cambridge. My PhD research focused on the function of the vesicle adaptor AP-4 and revealed an important role for AP-4 in trafficking the autophagy protein ATG9A and thus in the spatial control of autophagy. During my PhD, I received an EMBO Short Term Fellowship to work with Dr Georg Borner at the Max Planck Institute of Biochemistry in Munich, where I applied spatial proteomics to map protein mislocalisation in AP-4-deficient cells. I graduated with my PhD in 2019 and then moved to Georg Borner’s group at the Max Planck Institute of Biochemistry to conduct postdoctoral research investigating the mechanisms of AP-4 deficiency syndrome and to train in mass spectrometry in the department of Prof Matthias Mann. There my research was funded by a Marie Skłodowska-Curie Individual Fellowship and a Humboldt Research Fellowship. In February 2023, I took up a Lectureship at the University of Manchester and in 2024 I was granted a Springboard Award from the Academy of Medical Sciences to support my research programme focused on the role of protein mislocalisation in neurological disease.

Current

Juliet Redford, PhD Student

Zac Sandy, Research Technician

Samuel Squires, MSci Student

Alumni

Jani Padmanabh, MSc Student (graduated 2024)

Emily Hogben, BSc Student (graduated 2024)