Mitochondrial Disease Priority Setting Partnership
Amy is Director of Research at Genetic Alliance UK, an organisation representing over 200 patient groups. Genetic Alliance UK provides information, supports families and seeks to influence development of services to better meet the needs of patients affected by genetic, rare and undiagnosed conditions. Amy is responsible for running research activities to provide an evidence base for the organisation’s policy, campaigning and support work.
Amy has co-led two previous rare disease PSPs, on rare anaemias and rare musculoskeletal conditions.
Rhys is an Intermediate Clinical Lecturer and Honorary Consultant Neurologist working with the Wellcome Trust Centre for Mitochondrial Research in Newcastle. He trained in the South West of England, South Wales and Melbourne and his research focuses on the causes and consequences of epilepsy. His clinical practice focuses on adults with intellectual disability and epilepsy as well as supporting adults with mitochondrial disorders in Newcastle.
Sheela Upadhyaya is an experienced expert facilitator and mentor with over 17 years of experience in the NHS. She has been in the world of rare diseases for nearly 10 years as a commissioner and technology evaluator. She has a history of working in situations where she brings together patients, clinicians and other stakeholders to establish common goals and objectives and has completed over 15 JLA PSPs, 2 in rare diseases as an Adviser.
Russell is a co-founder and trustee of the UK based LHON Society, whom he represents as a voluntary patient advocate. He is an active volunteer for EURORDIS, the European rare disease patients’ organisation and for the European Reference Network for rare eye diseases, www.ern-eye.eu, where he is a patient representative on that network’s governing board.
Jenny is currently Research Communications Manager for Muscular Dystrophy UK, a charity bringing together over 60 rare and ultra-rare muscle weakening and wasting conditions. She is primarily responsible for overseeing the charity’s communications about research. Prior to joining Muscular Dystrophy UK, Jenny completed a PhD in mitochondrial biology at University College London.
Sarah is a clinical specialist physiotherapist based within the Mitochondrial Disease service at the National Hospital for Neurology and Neurosurgery.
She has extensive NHS experience, including: Neurological and vestibular rehabilitation; postural assessment and management; Neurological and Neuromuscular community therapy (with adults and children) and integrated health and social care teamwork.
Jo is a senior Genetic Counsellor who has worked as a Genetic Counsellor since 2004 and as part of the team at the Oxford Centre for Genomic Medicine since 2005. Jo obtained a postgraduate degree (MSc) in Genetic Counselling from Manchester University in 2004. Jo specializes in working with patients and families with Mitochondrial Conditions, as part of the Rare Mitochondrial Disorders Service in Oxford, and also sees patients with a wide range of other genetic conditions, including genetic eye disorders and hereditary cancers. More recently Jo has had responsibility for organizing dedicated clinics, recruiting families into the 100,000 Genomes Project, and for mentoring more junior colleagues and trainee genetic counsellors within her department.
Marcela Votruba is an Honorary Consultant Ophthalmologist and Professor in Ophthalmology at Cardiff University and The University Hospital of Wales. She obtained a PhD in ophthalmic genetics at The Institute of Ophthalmology, UCL, held Wellcome Trust and MRC Clinician Scientist Fellowships and is a former Consultant at Moorfields Eye Hospital and Visiting Research Scholar at the National Eye Institute, USA. She runs an inherited eye disease clinic.
Her research focuses on mitochondrial diseases and the eye. She is particularly interested in new treatments.
Catherine is currently a nurse consultant with the nationally commissioned Highly Specialised Service for Rare Mitochondrial Disease for adults and children in Newcastle.
Newcastle has the only UK site license permitting the use of Mitochondrial Donation. I was instrumental in the development of a new clinical pathway and now work as one of the clinical leads offering reproductive advice to women with mitochondrial disease.
Professor Shamima Rahman is Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health, London, where she runs the Mitochondrial Research Group. Her group’s aims are to improve outcomes for children affected by mitochondrial and other rare metabolic diseases by discovering mitochondrial disease genes, developing novel computational diagnostic strategies, and investigating therapeutic approaches where there are currently no disease-modifying treatments.
Lyndsey works in Science Communication for The Lily Foundation, the UK’s leading charity committed to finding a cure for mitochondrial disease, through funding research, raising awareness and family support. Lyndsey is based in the Wellcome Centre for Mitochondrial Research at Newcastle University where she completed her PhD in mitochondrial genetics.
Her research focused on the development of mitochondrial donation.