Scientific expert panel

Professor Robin Franklin (Chair)

Head of Translational Medicine, Welcome-MRC Cambridge Stem Cell Institute

Robin Franklin is Professor of Stem Cell Medicine. He obtained his undergraduate degrees in Physiology and Veterinary Medicine and his PhD in Neuroscience. He has worked predominantly on the biology of myelin regeneration (remyelination) and investigating strategies by which this important regenerative process may be enhanced therapeutically. He is at the forefront of studying the cellular mechanisms of remyelination, providing insights into how adult stem cells are recruited to areas of demyelination and the extrinsic and intrinsic factors that regulate their differentiation into remyelinating oligodendrocytes and other glial cell types. He is also Director of the UK MS Society Cambridge Centre for Myelin Repair, a consortium of Cambridge-based scientists and clinicians working towards stem-cell-based therapies for myelin regeneration. He is a Fellow of the Academy of Medical Sciences.


Professor Alain Hovnanian, MD, PhD

Professor of Medical Genetics and Director of INSERM department UMR 1163, Laboratory of Genetic skin diseases, University Paris Descartes – Sorbonne Paris Cité (France)

Alain Hovnanian studied Medicine at the Medical school of Paris XII University. In 1993, he identified COL7A1 encoding type VII collagen, as the defective gene for recessive dystrophic epidermolysis bullosa (RDEB) and completed his Ph.D at Paris VII University on the molecular aspects of inherited dystrophic epidermolysis bullosa. In 1993, he joined Prof. Mark Lathrop’s laboratory as a postdoctoral scientist at the Wellcome Trust Centre for Human Genetics at Oxford University, United Kingdom. During his stay in Oxford, he also identified the genes for Darier disease ((ATP2A2) (Nature Genet 1999, 21 :271-277) and for Netherton syndrome (SPINK5) (Nature Genet 2000, 25 :141-2), which are two other rare and severe genetic skin diseases  for which functional studies and new treatments are being developed. Since 2009, he has been appointed full professor of Genetics in the department of Genetics at Necker hospital for sick children in Paris. He runs a translational clinic on genetic skin diseases of children and adults aiming at fostering translation of research to new treatments for orphan diseases. He is in charge of genetic counselling and prenatal diagnosis for severe genetic skin diseases. He is the director of a new INSERM research laboratory on genetic skin diseases entitled “Genetic skin diseases: from molecular mechanisms to therapies”. His laboratory is one of the founding teams of the new IMAGINE Institute for Genetic diseases which opened in 2014 at Necker hospital in Paris.

Professor David Kelsell (Trustee)

Professor of Human Molecular Genetics at Blizard Institute, Queen Mary, University of London

After graduating from Sheffield University, I joined the Imperial Cancer Research Fund as a Scientific Officer where I completed a PhD on the “Genetics of familial breast cancer”. My PhD involved genetic studies to identify the two breast cancer genes, BRCA1 and BRCA2 and their importance in familial and sporadic breast cancer. T of breast cancer consortium papers including the landmark paper describing the cloning of the BRCA2 gene in Nature. In addition to my studies in breast cancer, I formed a longstanding collaboration with Professor Irene Leigh at the Royal London Hospital performing genetic studies on familial palmoplantar keratodermas. After a short but successful Wellcome Trust postdoctoral in which time we identified Connexin 26 (encoded by GJB2) as the main genetic cause of hearing loss, I joined SmithKline Beecham (now GlaxoSmithkline) where I used a bioinformatic approach to identify new molecular targets. From there I returned to academia and the Centre for Cutaneous Research as a Senior Lecturer to build an independent research team working on human skin genetics and keratinocyte biology. I was made Professor of Human Molecular Genetics in September 2003. I am Deputy Director of Research at the Blizard Institute and board member of the European Society of Dermatological Research. I have been a Trustee of Cure EB (formerly Sohana Research Fund) since its registration.


Dr Fulvio Mavilio, PhD

Scientific Director of Genethon (Evry, France), and Professor of Molecular Biology, University of Modena and Reggio Emilia (Italy)

Dr. Fulvio  Mavilio, Ph.D. serves as Vice President of Scientific Affairs – Europe at Audentes Therapeutics, Inc. Dr. Mavilio is the Founder of Genera SpA and served as its Chief Scientific Officer from 1999 to 2002. He served as Director of Genethon from 2012 to 2017. He served as Director of Discovery of Molmed SpA from 2002 to 2005. He serves as a Member of Scientific Advisory Board at Orchard Therapeutics Limited. He serves as member of the Board of the American Society of Gene and Cell Therapy. He is an expert and a pioneer in gene therapy and stem cell research. He was involved in the first clinical trials with gene transfer to bone marrow stem cells (ADA-SCID in 1992) and to epidermal stem cells (JEB in 2005). Dr. Mavilio is a member of the European Molecular Biology Association (EMBO) and Editorial Board of many international journals in the fields of genetics, molecular biology and gene therapy. He serves as Professor of Molecular Biology at the University of Modena and Reggio Emilia (Modena, Italy). He was co-Director of the San Raffaele-Telethon Institute of Gene Therapy in Milan from 1995 to 2002. An expert and a pioneer in the fields of gene therapy and stem cell research, Dr. Mavilio has published over 170 articles in major international journals


Professor Richard Piercy, MA VetMB MS PhD Dip ACVIM MRCVS

Professor of Comparative Neuromuscular Disease, Royal Veterinary College

Richard is an RCVS recognised specialist in Equine Internal Medicine and a Diplomate of the American College of Veterinary Internal Medicine. He directs the Comparative Neuromuscular Disease Laboratory at the RVC. He is Director of Research for the Department of Clinical Sciences and Services and Chairs the Clinical and Ethical Research Review Board. His clinical work mainly involves horses with neurological and neuromuscular problems. Richard’s research interests include comparative aspects of primary muscle disorders, including exertional rhabdomyolysis, polysaccharide storage myopathy and atypical myopathy in horses, centronuclear myopathy and dystrophin-deficient muscular dystrophy in dogs. His laboratory also has a growing international programme of research into recurrent laryngeal neuropathy in horses (“roaring”). Most research is laboratory-based, using cell and molecular biological techniques.

Professor Adrian Thrasher

Professor of Paediatric Immunology and Wellcome Trust Principal Research Fellow at the UCL Great Ormond Street Institute of Child Health

Adrian is currently Head of the Infection, Inflammation, and Immunity at UCL Great Ormond Street Institute of Child Health, and Lead for the Cell, Stem Cell, and Gene Therapy theme at the NIHR Great Ormond Street Hospital NHS Trust Biomedical Research Centre (BRC). He is also an Honorary Consultant Paediatric Immunologist at Great Ormond Street Hospital for Children NHS Foundation Trust. Prof Adrian Thrasher is a leader in paediatric immunology and in translation of cell and gene therapies for rare disease. In this context he has fostered major collaborations both nationally and internationally, and with colleagues have conducted some of the first successful trials of gene therapy in inherited immunodeficiencies. He’s published extensively in the field and secured substantial career grant funding. He has been board member of the American society of Cell and Gene Threapy, President of the British Society, and is currently board member for the European society (ESGCT). He became Fellow of the Academy of Medical Sciences in 2005, and NIHR senior investigator in 2008. Prof Adrian Thrasher was appointed to the planning committee for the International Summit on Human Gene editing at the National Academy of Sciences in Washington DC, 2015. He co-founded Orchard Therapeutics in 2016 (with Professor Bobby Gaspar), a haematopoietic stem cell gene therapy company ($30m Series A)


Professor Julie T Daniels, PhD, FRSB

Professor of Regenerative Medicine & Cellular Therapy

Director, Moorfields Eye Hospital Cells for Sight Stem Cell Research Unit

Julie Daniels is Professor of Regenerative Medicine and Cellular Therapy, and Founder and Director of the Cells for Sight Tissue Stem Cell Therapy Research Unit at the Moorfields Eye Hospital.  Her research centres on understanding the biology and therapeutic potential of stem cells (and the cells with which they interact) in order to develop and deliver novel cell-based therapies to patients suffering from blinding ocular surface disorders. Research work includes studying limbal epithelial stem cells (LESC) which maintain the vision critical corneal epithelium on the front of the eye. Other areas of interest include; detailed investigation of the stem cell niche using a combination of novel imaging techniques, understanding the role of the niche in LESC function, correction of LESC dysfunction using gene therapy and development and application of advanced laboratory and clinical techniques for human LESC transplantation, and  the role of growth factors in corneal wound healing, and in particular the blinding process of scarring, in order to identify potential therapeutic anti-scarring strategies.

She gained her PhD from the University of Leeds.  She moved to UCL/Moorefields Eye Hospital to become Professor of Regenerative Medicine and Cellular Therapy in 2011.