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.
Guðjón R. Óskarsson Guðjón R. Óskarsson Expand Guðjón R. Óskarsson is a pharmaceutical scientist (MSc) from Iceland. He was diagnosed with Duchenne muscular dystrophy and for that reason his professional interest is potential therapeutic approaches for DMD, which involves chemistry, biochemistry, muscle cell physiology and immunology. His Master’s thesis was on “Correction of DMD using Homology Directed Repair”, where he tried to use CRISPR technology to repair DMD dystrophic cells. He currently is doing PhD in population genomics at deCODE genetics in Reykjavík, Iceland. The research is focused on doing genome-wide association study (GWAS) to investigate neuromuscular disorders. Guðjón was chosen for Young Scientist Award from ENMC in 2016. He strongly believes DMD will be cured in not-so distant future
Dr Anthony Hall Dr Anthony Hall Expand Dr Anthony Hall (Tony) graduated from King’s College London with first class honours in physiology and pharmacology before going on to study medicine at the Royal Free Hospital. He joined the pharmaceutical industry in 1994 and has spent many years working on the development of drugs for rare diseases. From 2014 to 2015 Tony worked at Prosensa/Biomarin on the development of antisense oligonucleotides for the treatment of Duchenne muscular dystrophy. He currently works at Mereo BioPharma as Therapeutic Area Head Orphan Diseases. Tony speaks regularly at rare diseases conferences and is author of a number of articles and book chapters on orphan drugs. Together with the charity Findacure’s co-founder, he has recently published a book entitled “The Patient Group Handbook: A Practical Guide for Research and Drug Development”. Tony advises Duchenne UK in his capacity as co-founder of Findacure.
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.