• Leonard Parsons Professor of Paediatrics, University of Birmingham from 2011. HEFCE funded, -Honorary Consultant Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital (clinically active) from 1998, -Rare Diseases lead, NIHR Birmingham Bioresource Common and Rare 2016-, -Managing Director, NIHR Wellcome Clinical Research Facility at Birmingham Children’s Hospital 2008-, -Lead, University of Birmingham Centre for Rare Disease Studies 2013-, -Service lead NHS England highly specialized services for Wolfram; Alstrom (paediatric service); Bardet Biedl (Birmingham paediatric service)
• Chief Investigator Studies:
- Accelerating clinical trials in Wolfram syndrome: development of efficacy biomarkers and patient relevant outcome measures International Wolfram syndrome charities €120,000 2017-19.
- MRC-DPFS: Development of a novel repurposed drug treatment for the neurodegeneration and diabetes in Wolfram syndrome. MRC £2M 2017-2022
- Targeting autophagy as a shared mechanism in rare early-onset neurodegenerative diseases. LifeArc £454,000 2019-2022
- Childhood overgrowth syndromes. NIHR TRC Rare Diseases £210,000 2014-2020
• Patents: Method of treating or preventing Wolfram syndrome related neurodegeneration. Patent WO2014/049366 filed 2012.
• Orphan Drug Designation applications: European Medicines Agency application for orphan drug designation for Sodium Valproate as a novel treatment for Wolfram syndrome. Committee on Orphan Medicinal Products (COMP) approval 11 Dec 2014.