Scientific Advisory Board

The role of the SAB is to provide the Board of Trustees of the NPRF with an independent expert view on the merits of specific funding proposals for research and trials and also to be a forum to discuss the NPRF's overall approach to funding research and trials.  The SAB will also review and report back to the Board of Trustees on the periodic updates and the final report provided by grant recipients.

Professor Timothy M Cox MD PhD, University of Cambridge

Timothy Cox is Professor of Medicine in the University of Cambridge, UK - a foundation chair to which he was elected in 1988. As an internist with experience in pathology and a special interest in inborn errors of metabolism, he graduated from the University of London in 1971 with postgraduate qualifications in Biochemistry and Medical Science. In 1983-1984, he was Visiting Scientist in the Department of Biology at the Massachusetts Institute of Technology, Cambridge, MA, USA. As an educator, he founded the Cambridge MB/PhD programme in 1989, of which he is Honorary Director - this was the first programme of its kind in the UK. As Honorary Consultant Physician, in 1996 he founded the National Service Centre for the treatment and diagnosis of lysosomal storage diseases at Addenbrooke's Foundation NHS Hospitals Trust Cambridge; this is funded by the UK Department of Health.

Professor Cox, who is a Fellow of the UK Academy of Medical Sciences, has made discoveries relating to the genetic and molecular basis of several disorders, including haemochromatosis, porphyria and hereditary fructose intolerance; his therapeutic research is currently focused on neurodegenerative aspects of lysosomal storage disorders. He edited and authored Molecular Biology in Medicine and, with DA Warrell and JD Firth, is editor of the three-volume Oxford Textbook of Medicine; he has contributed over 220 original articles and invited chapters in textbooks and peer reviewed journals.

Dr David J Begley PhD, Institute of Pharmaceutical Science, Kings College London

David J Begley is Senior Lecturer in Physiology at King’s College London. He heads up a laboratory in the Pharmaceutical Sciences Division of King’s College London investigating the blood–brain barrier and drug delivery to the central nervous system (CNS), with special emphasis on lysosomal storage diseases (LSDs). He is author of more than 60 key peer-reviewed papers and 16 book chapters. Dr Begley was the Friedrich Mertz Stiftungsgast Professor at Johann Wolfgang Goethe-Universität, Frankfurt, for the academic year 1997–1998 and was sabbatical visiting Academic in Residence at GlaxoSmithKline in 2005–2007. He was organizer and Chairman of the Gordon Conference on  Barriers of the CNS’, held in New Hampshire in 2002.

He lectures frequently to worldwide audiences on the blood–brain barrier and receives research support from national research councils, the pharmaceutical industry and charitable foundations. With Professor Maurizio Scarpa of the University of Padova, Italy, he has recently set up the Brains for Brain Foundation and Research Consortium, a pan-European task force dedicated to the study and treatment of neurodegenerative LSDs.

Dr Robin Lachmann PhD FRCP, Consultant in Metabolic Medicine, National Hospital for Neurology and Neurosurgery, Queen Square, London

Robin Lachmann is one of two consultants at the Charles Dent Metabolic Unit, London, UK, where more than 1,500 adult patients with a wide range of inherited metabolic diseases are treated. After qualifying in 1990, Dr. Lachmann continued his training in internal medicine and metabolic medicine. He successfully undertook PhD research on herpes simplex virus-mediated gene delivery to the brain and post-doctoral work on glycosphingolipid lysosomal storage disorders.



Dr Susan Walsh, Head of Research and Specialist Services, The Chronic Granulomatous Disorder Society (CGDS)

Susan has a science background with a degree in Biochemistry and a Ph.D.  She worked for many years in laboratory based biomedical research on osteoporosis, rheumatoid arthritis and myasthenia gravis.  During her research career Susan held many research grants and has worked at the National Institutes of Health in the USA.

Susan joined the charity sector in 2002 working part-time for CGDS. Now in a full-time position her responsibilities are very broad including advising on research strategy, managing peer review, contracts, finance, research communication, policy issues and managing CGDS funded support services. Susan was a member of the Rare Disease UK Working Group on Coordination of Research in 2010 and is currently a member of the Executive Council of the Association of Medical Research Charities and the UK Gene Testing Network Clinical and Scientific Advisory Group.

Michael Edwards, Partner, Eden McCallum

Michael is a Partner at Eden McCallum in London, with particular experience across the pharmaceutical industry with a particular interest in the critical interfaces between R&D and commercial functions; and the industry, government and wider society.  Michael originally studied Chemistry at University College London, then worked at Glaxo, then GlaxoWellcome for five years.  He worked at Andersen Consulting, later Accenture, for several years prior to joining McKinsey & Company and subsequently Eden McCallum.