Dr. John Bourke Dr John Bourke Expand Dr John Bourke is a Consultant Cardiologist at the Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, UK and Honorary Clinical Lecturer at the Institute of Genetic Medicine at Newcastle University. John has a highly successful, dedicated Cardiology-Muscle Clinic at Freeman Hospital providing surveillance and treatment for patients with cardiac involvement in their inherited neuromuscular disorder. John is research active in clinically-based subjects in cardiac electrophysiology / arrhythmia management and cardiac aspects of neuromuscular disorders. John is the lead investigator in the DMDheart protection study - a randomised trial of ACE-inhibitor and beta-blocker therapy in preventing cardiomyopathy.
Prof. Annemieke Aartsma-Rus Annemieke Aartsma-Rus Expand Dr. Annemieke Aartsma-Rus is associate professor at the Leiden University Medical Centre and Newcastle University. She is currently Chair of the executive committee of the TREAT-NMD alliance and is a member of the Project Ethics Council and TACT Committee. She played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004) at the Leiden University Medical Center, Department of Human Genetics (the Netherlands). In 2007, she became leader of the “DMD exon skip group” - first, as assistant professor and currently as associate professor at the Department of Human Genetics. In 2014, she was chosen as the second most influential scientist in Duchenne Muscular Dystrophy in the past 10 years (2005-2014) by Expertscape. In 2013, she was elected a member of the junior section of the Dutch Royal Academy of Sciences, which consists of what are considered the top 50 scientists in the Netherlands under 45.
Dr. Eric Hoffman Dr. Eric Hoffman Expand Dr. Hoffman is a human geneticist and translational researcher focused on neuromuscular disease, where he helps lead international collaborative efforts on drug development and clinical trials in muscular dystrophy. He received his PhD in Drosophila molecular genetics from Johns Hopkins University, then carried out a post-doctoral fellowship at Boston Children’s Hospital and Harvard Medical School working on the identification of the DMD gene and protein. From 1990-1998 he led a lab at the University of Pittsburgh School of Medicine developing molecular diagnostics methods, gene identification, and gene therapy. From 1998-2015, he was Director of the Center for Genetic Medicine Research at Children’s National Medical Center, and Professor and Chair of the Department of Integrative Systems Biology at George Washington University, both in Washington DC. There, he formed a large, interdisciplinary research group on neuromuscular diseases. He recently transitioned to a mixed position, where he is Associate Dean of Research at SUNY Binghamton School of Pharmacy, co-founder and CEO of ReveraGen Biopharma (clinical-stage dissociative steroid drug development), and co-founder and Vice President of AGADA Biosciences (mouse efficacy trials). His research accomplishments include identification of the dystrophin protein, and defining its deficiency in DMD patient muscle, mdx mouse, dog and cat models. His lab identified initial voltage sensitive ion channel mutations in human diseases, and genetic causes of recurrent pregnancy loss. He is an inventor on nine patents, and has authored over 500 publications.
Professor Dame Kay Davies Professor Dame Kay Davies Expand Professor Davies has won numerous awards for her work and is at the forefront of a global effort to treat and cure Duchenne muscular dystrophy. Prof. Davies established the first physical map of the DMD gene and discovered the closely related gene called utrophin, which now forms a target for treating the disease. Davies serves as the Dr Lee’s Professor of Anatomy, Head of the Department of Human Anatomy and Genetics, and Honorary Director of MRC Functional Genetics Unit, at the University of Oxford. She has been a member of the Board of Governors at the Wellcome Trust since 2008. She is a founding fellow of the UK Academy of Medical Sciences and was elected a Fellow of the Royal Society in 2003. She was made Dame Commander of the British Empire for services to science in 2008.
Professor Steve Winder Expand Steve Winder is a Professor of Molecular Cell Biology in the Department of Biomedical Science at the University of Sheffield. Steve has a long-standing interest in DMD, having conducted research into the structure and functions of dystrophin, utrophin and dystroglycan for over 20 years. More recently Steve’s research direction has taken a more translational approach, using both zebrafish and mouse models of DMD to find novel therapeutic approaches to treat DMD. This has involved taking both a repurposing strategy to investigate the efficacy of certain anti-cancer inhibitor drugs in DMD, and also using natural products derived from soy as potential therapies. In his spare time Steve enjoys mountain biking in the Peak District, and the occasional Dash from London to Paris.
Professor Dirk Fischer Expand Dirk Fischer is leading the neuromuscular research group at the University Childrens Hospital in Basel, Switzerland. One of his main research interests is to identify objective clinical endpoints or surrogate imaging markers that are useful in evaluating disease progression in muscular dystrophies and related neuromuscular disorders. The second and most important area of scientific interest includes clinical studies aimed to slow the muscle degeneration in patients with muscular dystrophies. A positive effect on muscle metabolism of a treatment with metformin and L-citrulline was found in a monocenter randomised placebo controlled trial in 47 ambulant patients with Duchenne muscular dystrophy. Currently, his group is leading an international multi-centre randomised placebo controlled trial in 47 ambulant patients with Duchenne muscular dystrophy assessing the efficacy and safety of tamoxifen.
Dr. Dada Pisconti Expand Dada Pisconti was born in Italy where she received her Laurea degree (an integrated Bachelor + Masters) from the University of Perugia and her PhD from the University of Bari School of Medicine. In 2005, Dada moved for the first time to the US, to work in Brad Olwin’s lab at the University of Colorado, Boulder, where she improved her skills and knowledge in cell signaling and muscle stem cells. She then moved back to Europe to start her own lab at the University of Liverpool in 2012, where she remained until her second move to the US, in summer 2018, joining the Department of Biochemistry and Cell Biology at Stony Brook University, NY. As an independent scientist, Dada continued to investigate the cellular and molecular mechanisms regulating muscle stem cell biology and DMD pathogenesis. Dada’s work in the muscular dystrophy field addresses both basic research questions and translational needs. In the past 5 years, Dada’s research group has led two biomarker clinical trials in the UK, which led to the identification of three novel candidate biomarkers for DMD, currently under validation. Her group has also identified a new therapeutic target for DMD treatment and validated the efficacy of its pharmacologic targeting in a mouse model of DMD.
Dr. Valeria Riccoti Expand Originally from Italy, Dr Ricotti worked at the Dubowitz Neuromuscular Centre at University College London as a clinical researcher and investigator for numerous clinical trials for neuromuscular disorders, with a focus in Duchenne Muscular Dystrophy. As part of her research projects, she reported on the use, benefits and adverse effects of glucocorticoids in large cohorts of DMD subjects (NorthStar clinical network registry). With the goal to develop new pharmaco-gene therapies, Dr Ricotti joined industry as Medical Director for the neuromuscular franchise of BioMarin Pharmaceutical Inc. Subsequently, she worked at Solid Biosciences as Director of Translational Research and Development, with a focus on their AAV-delivered micro-dystrophin gene therapy programme for DMD and on the development of novel biomarkers. As Honorary Lecturer at the Great Ormond Street Institute of Child Health Dr Ricotti remains involved in academic research and notably in developing new technologies leveraging artificial intelligence and machine learning for monitoring neuromuscular diseases in children. In 2019 Dr Ricotti co-founded DiNAQOR, a gene therapy biotech focused on advancing novel solutions for children and adults suffering from monogenic cardiomyopathies. She currently holds a position as Executive Vice President and Chief Medical Officer.
Frank Robertson Expand Frank Robertson is a Mechanical Engineer by profession. In a diverse career, he has held engineering, manufacturing and general management roles with a number of multinational companies including B.Ae Systems, Hughes Aircraft Corporation (Now Raytheon), Motorola, Rosti, Lloyds Banking Group and Veolia. He has been involved in the design, development and manufacturing of many products including the Airbus A320, the AMRAAM missile, cellular mobile phones, Children’s Car Seats, Cash Dispensers and Credit Cards. Frank is currently leading our collaborative research and development project with Whizz-Kidz and the University of Edinburgh - Wheels of Change. This £1 Million project funded by the players of the Peoples Postcode Lottery aims to create a prototype powered wheelchair equipped with the latest technology and transform the wheelchair market in the same way the iPhone revolutionised the mobile phone industry
Dr Olivier M. Dorchies Expand Dr. Olivier M. Dorchies is a biochemist and physiologist by education and a pharmacologist by training. For 25 years, he has been working on muscle physiology and pathology, using in vitro and in vivo techniques. Using murine models of Duchenne muscular dystrophy and X-linked myotubular myopathy, he developed four major lines of research: understanding pathogenic mechanisms, evaluating compounds of therapeutic value (essentially nutraceuticals and repurposed drugs), developing models that are better phenocopies of the human diseases, and establishing standard operating procedures for better preclinical research. In the last 15 years, his work with green tea polyphenols, rimeporide and tamoxifen in mouse models of Duchenne muscular dystrophy promoted the clinical trials SUNIMUD, RIM4DMD and TAMDMD. His recent work on the protective effects of tamoxifen and the roles of estrogenic signalling in X-linked myotubular myopathy inspired the clinical trial TAM4MTM-UK. His current work towards improving muscle function for DMD patients includes the evaluation of tamoxifen combined to L-citrulline and metformin, a panel of anti-fibrotic compounds, and branched-chain aminoacids.