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 that 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 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.
Fiona Lawrence Fiona Lawrence Expand Fiona Lawrence is a senior clinical research scientist. She has a wealth of experience in Duchenne muscular dystrophy and clinical trials. She previously worked at Prosensa and then Biomarin on their exon skipping trials for DMD. Before that she worked on clinical trials at Cambridge University Hospitals and at Genzyme, a biotech working with rare diseases. Fiona previously worked for Duchenne UK as the Director of Research & Clinical Development. We’re very pleased to say that she is going continue working for Duchenne UK as a consultant and has also joined the SAB.
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 disease. 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). 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 disease, and genetic causes of recurrent pregnancy loss. He is an inventor on nine patents, and has authored over 500 publications.
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 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.
Dr Michael Gait Dr Michael Gait Expand Professor Michael Gait is Programme Leader at the Medical Research Council. His laboratory of Molecular biology in Cambridge is working on PNA and PMO oligonucleotides as therapeutics for exon skipping in Duchenne muscular dystrophy. He is a Fellow of the Royal Society of Chemistry. Mike Gait is currently working in collaboration with Professor Matthew Wood at Oxford University on new treatments for Duchenne muscular dystrophy.
Robert McDonald M.D Robert McDonald M.D Expand Bob is the father of 9 children, including his very special youngest son, Mark, age 11, diagnosed with DMD at age 2. He is a practicing ENT surgeon in the USA. He graduated Magna Cum Laude from the University of Missouri School of Medicine and performed biomedical research at the University of Missouri, Columbia University College of Physicians and Surgeons and Cornell University Medical College. He served for 6 years on the BOD and is the immediate past chairman of Parent Project Muscular Dystrophy. He currently serves on the scientific advisory board of PPMD and is a reviewer for the U.S. Dept of Defense DMD Research Program. Along with everyone on the scientific advisory board and at Duchenne UK, Bob is determined to End Duchenne in Ten.
Alasdair Robertson Alasdair Robertson Expand Alasdair is the first parent member and lay advisor to our SAB. He also sits on the Patient Advisory Board. His son Felix, aged 4, was diagnosed with Duchenne in December 2014, and he has wholeheartedly thrown himself into the race to find a cure, as well as the search for innovative, disease-mitigating treatments. Alasdair studied at Loughborough University and the University of Cambridge. He has a London based surveying company and lives in Gloucestershire, with his wife Robyn, their two children, Felix and his little sister Lumi, aged 2, and ‘Happy’ the dog.
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 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.