Dr Stephen Mullin

    Overview

    Profile summary

    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. 

    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.

    Member of Health Research Authority Confidentiality Advisory Group

    Expertise related to UN Sustainable Development Goals

    In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

    • SDG 3 - Good Health and Well-being
    • SDG 17 - Partnerships for the Goals

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