Save Our Sons Duchenne Foundation have established a world-class Scientific Advisory Committee to advise the Board on funding for Research and Clinical Trials and arrangements and decisions pertaining to key health-related policy.
Committee members were selected on the basis of academic or medical excellence, history of breakthroughs and their commitment to accelerating treatments to people with Duchenne and Becker muscular dystrophy.
The strength of the Committee demonstrates the Foundation’s commitment to responsible spending and the priority that we place on funding the best research with the best chance of success.
The role of the Committee is to:
• Evaluate research projects in order to only fund projects that will deliver the greatest impact to patients with Duchenne and Becker muscular dystrophy.
• Make decisions about research in an international context and evaluate proposals with global visibility.
• Ensure good governance.
• Safeguard best practice in research funding.
• Protect the integrity of the Foundation and provide a transparent platform for decision-making.
Any proposal for funding for research, study, or trial purposes will be sent for the formal consideration of the Committee in order for them to provide formal advice for consideration to the full Board for a decision, based on their directly relevant expertise and in a purely objective and professional manner in the best interests of the Duchenne and Becker community in Australia and the organisation.
Enhancing governance through establishing the Scientific Advisory Committee will ensure the greatest impact of every dollar, resource and effort expended in securing a cure for Duchenne and Becker muscular dystrophy and will lead the organisation closer to achieving sector best practice in this regard and be of the greatest benefit to the Duchenne and Becker community in Australia.
The Committee members are:
• Prof. Dr. Annemieke Aartsma-Rus
• Brenda Wong, MD
• Professor Monique Ryan
• Professor Dominic (Nic) Wells, and
• Professor Miranda Grounds
Professor Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. 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 (the Netherlands). As of December 2007 she became leader of the “DMD exon skip group”. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to develop the exon skipping approach as a therapeutic option for other rare diseases and to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.
She is President of the Oligonucleotide Therapeutics Society (2019-2020) and vice-chair of COST Action CA17103 (Delivery of antisense RNA therapies) and the TREAT-NMD executive committee. She has been selected as most influential scientist in Duchenne muscular dystrophy in the past 10 years by Expertscape based on contributions to the understanding and treatment of Duchenne muscular dystrophy four times in a row (2015-now).
In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of this work and her dedication to the Duchenne field. She also writes regular blogs for the LUMC.
She is a member of the Therapies Scientific Committee of the International Rare Disease Research Consortium (IRDiRC). She was chair of the COST Action “Networking towards clinical application of antisense-mediated exon skipping for rare diseases” (2013-2017), and Chair of the executive board of the TREAT-NMD alliance (2014-2016). She is co-editor in chief of Nucleic Acid Therapeutics, and serves on multiple editorial boards, e.g. Journal of Neuromuscular Diseases (associate editor), Molecular Therapy, and Cardiovascular Genetics and Genomics. She is a member of the TREAT-NMD project ethics counsel and of the TREAT-NMD Advisory Committee for Therapeutics (TACT) and the scientific advisory board of Genethon.
Brenda Wong, MD
Professor of Pediatrics and Neurology
Director, University of Massachusetts Duchenne Muscular Dystrophy Program
University of Massachusetts Medical School, Worcester, MA
Dr Wong was trained in pediatrics in Singapore and the United Kingdom prior to her completion of a Pediatric Neurology fellowship at the Cincinnati Children’s Hospital Medical Center, Ohio, USA. She also received training in Pediatric Neuromuscular medicine at the Hammersmith Muscle Clinic in London, UK. Dr Wong now specializes in the clinical care of patients and families with Duchenne/Becker muscular dystrophy (DBMD). Dr Wong has also been active in translational and clinical research in DMD.
Dr Wong founded the Interdisciplinary Neuromuscular Care Center at Cincinnati Children’s Hospital Medical center in 2000 to provide optimal integrated care for patients with neuromuscular disorders, most of whom have Duchenne muscular dystrophy (DMD). She then transitioned to the University of Massachusetts, Worcester, Massachusetts in 2018 to focus on the U Mass DMD Program. The U Mass DMD program delivers comprehensive team based, collaborative, coordinated, patient and family centered care for patients and families with Duchenne and Becker muscular dystrophy; which also includes the provision of clinical trial opportunities for patients with DMD.
Professor Monique Ryan
Professor Ryan is Director of the Neurology Department of the Royal Children’s Hospital, Melbourne Australia, where she is also head of the neuromuscular clinical research program and multidisciplinary Neuromuscular Clinic. This clinic oversees the care of more than 500 children with a variety of neuromuscular disorders. Prof Ryan’s research interests include natural history studies and clinical trials of new therapies for myopathies, muscular dystrophies, neuropathies and spinal muscular atrophy. Her group has been involved with more than 20 national and international therapeutic trials for DMD, CMT, FA, AT and SMA. She has written more than 120 peer-reviewed publications, many in highly-ranked journals, and was a co-author of Neuromuscular Disorders of Infancy, Childhood and Adolescence (2ndedition). Professor Ryan is a senior member of several international neuromuscular research consortia, a member of the CINRG executive committee, and is a member of the extended TREAT-NMD Therapeutics Advisory Committee.
Professor Miranda Grounds
Professor Grounds is a Research Scientist who has specialised in studying skeletal muscle and muscular dystrophies for over 40 years. Miranda graduated in Science from the University of Western Australia (UWA) in 1969, obtained a PhD from the University of London in 1978, returned to UWA and in 1980 became an independent research scientist funded by grants from the National Health & Medical Research Council Australia for about 20 years. In 1994 Miranda was appointed as Professor of Cell Biology at UWA and in 2014 she became an Emeritus Professor; she remains dedicated to research with strong international networks.
Her neuromuscular research has focussed on the cell and molecular biology of skeletal muscle, mainly using mouse models to better understand factors controlling the growth, maintenance, damage and regeneration of skeletal muscle during normal ageing and in disease, with a particular focus on developing potential treatments for Duchenne muscular dystrophy (DMD). Her pioneering work in muscle regeneration and therapies for muscular dystrophies is widely recognised internationally. Current main projects include (i) the development of biomarkers plus a proposed clinical trial using taurine to reduce disease severity in DMD, (ii) novel investigations to define the molecular basis for Dysferlinopathies, plus (iii) investigations to understand the molecular mechanisms underlying age-related loss of normal skeletal muscle mass and function (sarcopenia), along with the benefits of exercise. This research has many applications to human health, disease and ageing; it has generated more than 210 publications (including 20 in last 2 years) with over 9,300 citations. For all publications see http://school.anhb.uwa.edu.au/personalpages/grounds/publication.html
Furthermore, with the TreatNMD Advisory Committee for Therapeutics (TACT), Miranda plays a central role in clinical trial evaluations for DMD and a wide range of other neuromuscular diseases.
Professor Dominic Wells
MA VetMB PhD MRCVS FHEA FRSB
Professor in Translational Medicine
Professor Dominic (Nic) Wells qualified from Cambridge University as a veterinary surgeon in 1984 together with a first-class BA in Applied Biology. After several years in very mixed general practice in Nottinghamshire he attended the University of Wyoming in the USA. Here he studied comparative exercise physiology with antelope and goats as well as writing his PhD on hummingbird flight energetics. Returning to the UK in 1990, he took a temporary lectureship at the Royal Veterinary College in London. In 1992 he was appointed to a full lectureship. In 1995 he moved to the Charing Cross and Westminster Medical School, now part of the Faculty of Medicine at Imperial College London. He was appointed Professor at Imperial College October 2005. In January 2010 he moved back to the Royal Veterinary College as Professor in Translational Medicine.