Dr Stephen Mullin
Associate Professor and Honorary Consultant in Neurology
Peninsula Medical School (Faculty of Health)
I am a neurologist and clinical academic with a research interest in Parkinson disease. My primary interest is the genetic and clinical stratification of the risk of Parkinson disease for targeting of novel neuroprotective compounds. I also have expertise in clinical trial design and implementation and internet based clinical assessment in Parkinson disease.
To date the majority of my research has centered on the glucocerebrosidase (GBA) pathway, numerically the most significant genetic risk factor for Parkinson disease. This included the day to day running of a phase II clinical trial of ambroxol, a putative neuroprotective and small molecular chaperone of the glucocerebrosidase enzyme (GCase). Additionally I jointly run an internet based cohort study, Rapsodi (http://rapsodistudy.com), which aims to stratify GBA mutations carriers without Parkinson disease in terms of their disease risk using clinical, genetic and biochemical parameters. I also run a http://pdfrontline.com, a portal of genotyping of those with Parkinson disease for GBA and LRRK2. The ultimate of these studies is provide a cost effective platform for targeting of future neuroprotective compounds.
I have a burgeoning interest in the use of machine learning and artificial intelligence to improve care, solve clinical problems and answer mechanistic question in relation to Parkinson's and other disease areas. I head an ongoing project which aims to use routine imaging data, collected from across the South West Peninsula, to develop novel biomarkers of the development of Parkinson's.
BSc. Medical Sciences, University College London, 2006.
MBBS. Medicine, Imperial College London, 2008.
MRCP, Royal College of Physicians, 2012 .
Molecular Neurology and Therapeutics course, Wellcome Trust, 2014.
Advanced course is epidemiology and statistics, London School of Hygiene and Tropical Medicine, 2017.
PhD. Neuroscience, University College London, 2018
Specialty Certificate Examination in Neurology, Royal College of Physicians, 2019
Postgraduate Diploma in Genomic Medicine, University of Exeter, 2021
Roles on external bodies
Chair of infrastructure working committee and member of steering committee of ACT-PD multi arm multi drug clinical trial development consortium - ACT PD consortium
Scientific advisory board member - Rostock International Parkinson's Disease Study (ROPAD)
Neurology SCE exam standard setting committee - Royal College of Physicians
Member of the Charity Operational Group - Plymouth Hospitals Charity
Member NIHR Health Technology Assessment (HTA) Prioritisation Committee: Hospital Based Care.
Key publications are highlightedJournals
Reports & invited lectures
High prevalence of distal sensory polyneuropathy in antiretroviral-treated and untreated people with HIV in Tanzania World Congress of Neurology November 2012, Marrakesh
Seeing the wood through the trees: Which GBA mutation carriers get Parkinson’s disease, when and why? Leonard Wolfson annual neurodegeneration symposium London, February 2016
Gaucher and Parkinson’s disease: Questions and opportunities. European Society of Lysosomal storage diseases, Vienna, October 2016
GBA Parkinson’s: a prototype for targeted neuroprotection in idiopathic Parkinson’s disease Parkinson’s UK annual conference, Leeds, November 2016
Novel therapeutic approaches in GBA PD, Italian Society of Neuroscience annual meeting, Ischia, Italy, October 2017
Disease modifying therapies for Parkinson's disease - MOViews Accamedia Limpe webinars, Pavia, Italy, 2020