Co-Founder of Duchenne UK & co-founder CEO of Joining Jack

Alex founded the charity Joining Jack with her husband, ex-rugby league player Andy Johnson, following their son Jack’s diagnosis with Duchenne muscular dystrophy in 2011. The rugby community came together to help the family and helped them create international awareness for Duchenne with innovative campaigns like #Link4DMD. Alex has subsequently joined the board of United Parent Project (UPPMD) and has helped organise international awareness events like World Duchenne Awareness Day.

She has represented the Duchenne community by speaking at international conferences around the world, workshops and meetings with the FDA, EMA, MHRA, NICE and at the Houses of Parliament. Alex was honoured to join the steering committee that helped organise a workshop with the EMA on exon skipping. Following the meeting, the steering committee published an article in the Lancet. Alex completed training at a Eurordis summer school to become a trained patient advocate and is also a member of the MHRA patient group consultative forum.

Consultant Paediatric Neurologist at Great Ormond Street Hospital

Anna Sarkozy is a neuromuscular consultant working at the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital, and together with her colleagues, runs weekly clinics for patients with Duchenne muscular dystrophy. In particular, she has set up a dedicated clinic for older children with DMD who are non-ambulant and closer to transition to adult services. Anna also has an interest in genetic aspects of DMD as well as of females who carry DMD gene changes.

Professor of Translational Genetics at Leiden University Medical Center

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (LUMC, the Netherlands). Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy and rare brain diseases. This involves work in cell and animal models to improve efficiency of exon skipping, studies in muscle pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing and the generation and detailed analysis of mouse models. Finally, she aims to bridge the gap between stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases and to develop exon skipping therapies for patients with unique mutations.

She has published over 250 peer-reviewed papers, 11 book chapters and 15 patents. She has given many invited lectures at scientific conferences and patient organization meetings, where she is known for her ability to present science in a clear and understandable way. She created and maintains an overview of different therapeutic approaches for Duchenne on the TREAT-NMD website.

In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of her dedication to the Duchenne field. From 2015-2023 she was the most influential scientist in Duchenne muscular dystrophy in the past 10 years 8 times in a row.

Co-founder and CEO of Duchenne UK

After her eldest son was diagnosed with Duchenne muscular dystrophy (DMD), Emily established the Duchenne Children’s Trust. The charity joined forces with Joining Jack and is now Duchenne UK. Since 2012 they have spent more than £17 million on accelerating the search for treatments and a cure for DMD, and have set up groundbreaking and award-winning collaborations, turning Duchenne UK into the UK’s largest funder of DMD research.

Emily has advocated on behalf of patients around the world in meetings at the Food and Drug Administration (FDA), European Medicines Agency (EMA), Medicines and Healthcare products Regulatory Agency (MHRA), National Institute for Health and Care Excellence (NICE) and Scottish Medicines Consortium (SMC). She was praised in the House of Commons for the charity’s work by the then Minister for Life Sciences, and in 2017 Emily and her co-founder Alex Johnson were awarded a Points of Light award by the Prime Minister for their passionate work.

Emily is a former member of the Association of the British Pharmaceutical Industry’s (ABPI) eight-person Patient Advisory Council, and sits on the Steering Group for the ABPI’s Patient Organisation Forum. She is also a member of the MHRA’s Patient Group Consultative Forum, as well as the Steering Group for the regulator’s new Innovative Licensing and Access Pathway (ILAP).

Professor of Paediatric Neurology at University College London

Francesco Muntoni is a Professor of Paediatric Neurologist and the Director of the Dubowitz Neuromuscular Centre, at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. In the Institute and hospital, he led the Novel Therapies Programme of the Biomedical Research Centre between 2008 and 2022 and also led the Developmental Neuroscience Programme between 2008 and 2018. Since 2008, he has been the co-director of the MRC Centre for Neuromuscular Diseases at UCL.

Muntoni has an interest in pathogenesis, deep phenotyping, gene identification for rare neuromuscular conditions and translational research in Duchenne muscular dystrophy, spinal muscular atrophy and congenital myopathies. He is involved in several natural history studies and clinical trials. His research funded by the Department of Health, MRC and the European Commission led to the development and early clinical trials of 2 morpholino antisense oligonucleotides, now approved by FDA, that induce partial correction of the processing defect of the DMD gene in boys with Duchenne muscular dystrophy. He is the UK chief investigator for multiple clinical trials on DMD and SMA, including genetic therapies involving antisense oligonucleotides and AAV delivered transgenes.

In 2022, Muntoni was made director of the Genetic Therapy Accelerator Centre, a new gene therapy translational research partnership, based at Queen Square Institute of Neurology and in close collaboration with the UCL Great Ormond Street Institute of Child Health. This cross-faculty collaboration within UCL will drive forward an exciting evolving area with direct therapeutic benefits for patients with disabling neurological conditions.

In the last few years, he obtained several international awards, including the 2022 Ottorino Rossi Award, the World Duchenne Organisation 2022 Leadership Awards and the 2023 European Paediatric Neurology Society Jean Aicardi Award.

Associate Professor of Education at the University of East London

Janet is an Associate Professor of Education at the University of East London where she teaches undergraduate, masters and doctoral programmes in the area of Special and Inclusive Education and Disability.

From 2008  to 2011, Janet managed the lottery-funded Include Duchenne Project in which she worked with over 60 young people with DMD, their schools and families to improve literacy skills and inclusion at school and which won the 2011 National Lottery Award for Education. From 2011- 2016 Janet co-managed the lottery-funded Takin’ Charge Transition to Adulthood programme which worked with 80 young people with DMD, their families and siblings.

In 2018, Janet edited The Guide to Duchenne Muscular Dystrophy for Teachers and Parents which focuses on the lesser-known social, emotional and educational aspects of DMD. Janet has a 23-year-old son with DMD along with a 21-year-old daughter and an 18-year-old son.

Paediatric Endocrinologist at the University of Glasgow

Dr Jarod Wong is a paediatric endocrinologist based in Glasgow with an interest in childhood chronic disorders and their impact on growth, puberty, bone health and body composition. He leads the Bone, Endocrine & Nutrition Research Group in Glasgow (BEN-G) based at the University of Glasgow.

Dr Wong is the lead of the Bone & Endocrine Working Group and co-lead of the Nutrition Working Group of DMD Care UK. Dr Wong is also the co-chair of a group (OPTIMIZE-DMD) that is currently reviewing the international standards of care for bone and endocrine issues in DMD. He is also the chair of the Clinical Committee of the British Society of Paediatric Endocrinology and Diabetes.

Consultant Cardiologist & Senior Clinical Lecturer at the John Walton Muscular Dystrophy Research Centre, Newcastle University

He is a Consultant Cardiologist (Electrophysiologist) at the Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, UK, and Senior Clinical Lecture at Institute of Translational and Clinical Research, Newcastle University, Newcastle, based at the John Walton Muscular Dystrophy Research Centre, International Centre for Life in Newcastle.

He served as panel member on the original International DMD Care Considerations guideline project, convened by the US Centre for Disease Control and Prevention, Atlanta, USA (2008-09) and has contributed to various European (2009) and UK Guideline (2018-22) initiatives. He has co-convened or participated in various European Neuromuscular Centre Workshops (2002-23).

In addition to publications on cardiac arrhythmias, he has published extensively in peer-reviewed journals and written book chapters on cardiac involvement in inherited muscle disorders. John was chief investigator for the UK, multi-centre, randomised, placebo-controlled DMD Heart Protection Study (2011-18) and co-author of a Cochrane Systematic Review: Prevention and treatment for cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy (Cochrane Database of Systematic Reviews 2018, Issue 10. Art. No.: CD009068. DOI: 10.1002/14651858.CD009068.pub3)

Lead Clinical Research Dietitian DMD Care UK at Duchenne UK

Laurie was recently appointed as the lead clinical research dietitian for the DMD Care UK nutrition project. She has worked extensively in public health nutrition and as a paediatric dietitian, and specialised in the care of children with another rare genetic long-term condition, cystic fibrosis (CF), for the last 13 years.

Her PhD focussed on developing an online nutrition education programme for children with CF and she brings experience in developing nutritional guidance and resources for families and clinicians.

Professor of Neuromuscular Disorders at Newcastle University

Michela Guglieri, MD, is a Senior Clinical Lecturer and Consultant Neurologist at Newcastle University and Newcastle Hospitals NHS Foundation Trust. Michela has a specific interest in care, management and translational research in inherited neuromuscular disorders.

Michela has been involved in several clinical trials in Duchenne muscular dystrophy (DMD) and other neuromuscular disorders and is the study chair for two large international trials in DMD. 

Michela is interested in supporting the improvement of care and treatment for patients with neuromuscular disorders as well as drug development and translational research, taking the experience from DMD to other neuromuscular diseases.

SEND Advisory Teacher at Decipha

Nick Catlin is a Special Educational Needs and Disability (SEND) Advisory Teacher with Decipha. He was a founding member and CEO of the Charity Action Duchenne.

He was the SENCO of a mainstream Secondary School in London and has also worked in Special Schools and as a Deputy Head of a PRU. He has worked in SEND for over 30 years.

Since developing the RoadMap for Life programme in collaboration with Duchenne UK, Nick has supported over 300 Duchenne families and schools. Nick has written for the very successful Guide to Duchenne Muscular Dystrophy for Parents and Teachers edited by Professor Janet Hoskin.

He is currently working with DUK on the Care DMD project to develop psychosocial guides and best practices for Neuromuscular Centres, parents and schools.

Consultant Child and Adolescent Psychiatrist at Joining Jack

Dr Rory Conn is the National Psychiatric Lead for young people with Duchenne. He is now halfway through his three-year post. He is a Consultant Child and Adolescent Psychiatrist based in Exeter, Devon. He has a longstanding interest in the overlap between physical and mental health problems. You can find out more about his work on his website and on Twitter.

Professor of Medicine and Neuromuscular Genetics at John Walton Muscular Dystrophy Research Centre, Newcastle University

Professor Straub trained as a pediatric neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy (DMD) and worked as a postdoctoral research fellow in Dr Kevin Campbell’s laboratory at the Howard Hughes Medical Institute at the University of Iowa in Iowa City, USA. He joined the Institute of Genetic Medicine at Newcastle University, UK, in 2003.

Professor Straub has a long-standing interest in the pathogenesis of genetic muscle diseases, with research involving zebrafish and mouse models, the application of magnetic resonance imaging, next generation sequencing and other –omics technologies.

One of Professor Straub’s main interests in muscle diseases is around translational research. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD, and is involved in many large European projects funded by the EU (BIND, c4c, Solve-RD, CoMPaSS, Paladin). He is an NIHR Senior Investigator and the Chief/Principal Investigator for several natural history and interventional trials in DMD, limb girdle muscular dystrophy, Pompe disease, spinal muscular atrophy, and other neuromuscular diseases. Volker represents the UK on the European Cooperation in Science and Technology (COST). He is the current president of the World Muscle Society and an author on over 450 peer-reviewed publications.