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.

Executive Director, Medical Affairs and Strategic Partnerships

Amit Aggarwal has over 14 years of experience in the pharmaceutical industry, most recently at LEO Pharma as Medical Director for the UK and Ireland. Prior to that he spent over a decade at Bayer where he held various roles including pharmacovigilance, Global medical affairs, and latterly as Director of Medical Affairs UK for General Medicine.

His background is as a medic, spending 5 years working clinically in the NHS, mainly in secondary care. Amit has worked on both innovative and established product launches, spanning a range of therapy areas including oncology, women’s health, cardiovascular medicine, dermatology and thrombosis in the UK and globally.

Amit holds a MA in Neuroscience from the University of Cambridge, and a MBBS from Guy’s, King’s & St Thomas’ School of Medicine. 

Background in Paediatrics and Neonates

Anna initially specialised in paediatrics and neonates and gained a PhD in predicting outcomes in preterm infants from Sheffield University in 2004. She is currently self-employed creating materials for an international platform, pod-nmd.org – a Treat-NMD, educational platform for therapists working with neuromuscular disorders. This includes podcasts, and certification in various outcome measures via video observation. She also acts as a consultant on physiotherapy and outcomes for industry and patient advocacy groups. From 2009 until 2022 she worked for the Newcastle Muscle Centre where she was a Consultant Research Physiotherapist involved in delivering clinical and research activity for children and adults. She remains affiliated to John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Prior to this she was Network Coordinator for Smartnet, a UK based project on the standardisation and collection of clinical measures for Spinal Muscular Atrophy (SMA).  

Anna has published extensively in peer reviewed journals on outcome measures for use in various neuromuscular disorders (NMD’s) including duchenne muscular dystrophy, SMA and limb girdle muscular dystrophy. These have incorporated the use of modern psychometrics. Anna is a consultant and trainer for various pharmaceutical companies specifically relating to clinical evaluation.  

Consultant Paediatric Neurologist 

Anne-Marie Childs is a consultant paediatric neurologist in Leeds, where she has been leading for the NM service since 2000. She is PI for a number of clinical trials in DMD, a member of the Steering Committees of: Northstar network, DMD Hub, DMD Care and the DMD Central Recruitment Database. She chaired the respiratory working group of the DMD Care UK project and is a member of the working groups looking at corticosteroid use and nutrition. She is now Co- Lead for the Transition project with Lisa Cutsey. 

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.

Clinician Scientist

Dr. Barry Byrne is a clinician scientist who is studying a variety of rare diseases with the specific goal of developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function.  His group has made significant contributions to the understanding and treatment of Pompe disease, a type of neuromuscular disease due to glycogen storage in motor units.  The research team has been developing new therapies using AAV-mediated gene therapy to restore cardiac and skeletal muscle function in DMD, Friedreich’s ataxia, Pompe, and other inherited neuromuscular diseases. His group at the Powell Center has also established a series of new methods for large-scale AAV clinical manufacturing. The work is supported by several NIH, industry and foundation awards. 

Dr. Byrne is the Associate Chair of Pediatrics and Director of the University of Florida Powell Gene Therapy Center and Child Health Research Institute. He obtained his B.S. degree from Denison University; M.D. and Ph.D. from the University of Illinois; and he completed his Pediatrics residency and cardiology fellowship as well as post-doctoral training in Biological Chemistry at the Johns Hopkins Hospital.  Following his early career at Hopkins, he joined the University of Florida and is now the Earl and Christy Powell University Chair in Genetics. 

In addition to his academic appointments, he serves as the Chief Medical Advisor of the Muscular Dystrophy Association and a member of the MDA Board of Directors. 

Duchenne Patient Advocate and member of Pathfinders Neuromuscular Alliance.

Benjamin is a determined young man living with Duchenne Muscular Dystrophy (DMD) at home in Surrey, currently pursuing his MSc in Sustainable Development at SOAS. As a disability consultant and passionate patient advocate for the Duchenne community, he actively contributes to the DMD Care UK Educational and Psychosocial working groups. He has worked with charities supporting the DMD community, including Duchenne UK and Action Duchenne, alongside his role as a member of the Pathfinders Neuromuscular Alliance (PNA). Previously, he worked in healthcare communications at Intent Health. Benjamin is dedicated to amplifying the voices of those living with DMD and is resolutely pursuing a fulfilling life. He is passionate about music, enjoys being outdoors, watching films/documentaries and sometimes gaming.

Head of Data, Duchenne UK

Bouchra is the Head of Data at Duchenne UK, leading the development of the charity’s patient data platform. She joined Duchenne UK in April 2024, bringing over five years of experience in research and development across academia, industry, and the public sector. Throughout her career, she has held various managerial, scientific, and leadership roles, focusing on the intersection of data, technology, and healthcare.

Bouchra holds a triple master’s degree in Biomedical Sciences, Systems Biology, and Bioinformatics, as well as a PhD in Data Science. Her expertise lies in translational research, leveraging big data and machine learning to extract meaningful insights and drive innovation in healthcare.

DMD Care UK Manager

Cathy Turner is the DMD Care UK Manager based at The John Walton Muscular Dystrophy Research Centre at Newcastle University, funded by Duchenne UK.

Previously, Cathy was the coordinator of the TREAT-NMD Advisory Committee for Therapeutics (TACT) and remains closely involved. This is a unique multi-disciplinary and international group of leading academic and industry drug development experts as well as representatives from patient foundations and regulatory experts. A TACT review provides detailed guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases, many of which have been for DMD.

She works closely with colleagues (in Newcastle and beyond) involved in all aspects of DMD diagnosis, care and research – from physiotherapists, clinical consultants and trial coordinators to lab-based research staff, patient organisations and members of international networks such as TREAT-NMD.

Clinical Psychologist at the John Walton Muscular Dystrophy Research Centre

Chloe Geagan is a Clinical Psychologist at the John Walton Muscular Dystrophy Research Centre. I support children and young adults with Dystrophinopathies and their families from the point of diagnosis, as well as colleagues to expand their expertise in DMD and BMD. I have dedicated research time as part of the DMD Care UK project to help develop national psychosocial standards of care and referral pathways for families with DMD. I am also involved in the European study called BIND, looking at the brain involvement in Dystrophinopathies which I hope better highlight support needs for individuals with BMD 

My background includes working with children and young people (CYP) and their families living with long-term physical health conditions in acute paediatric health settings including neurology and oncology, as well as in community and inpatient mental health services. I am currently specialising in Clinical Paediatric Neuropsychology which looks at the links between brain and behaviour. I have a strong interest in improving services for CYP with long-term and life limiting physical health conditions. 

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).

DMD Hub Manager

Emma Heslop is the DMD Hub manager based at The John Walton Muscular Dystrophy Research Centre at Newcastle University, funded by Duchenne UK.

Emma trained as a biological anthropologist at Durham University and was awarded an MSc (Research) in 2005. She has been part of the muscle team at the John Walton Muscular Dystropy Research Centre at Newcastle University since October 2006 when she joined the TREAT-NMD neuromuscular network of excellence as assistant project manager.

Within TREAT-NMD, Emma was responsible for leading the work relating to ‘Network in Action’ for DMD and SMA and enhancing international collaborations. From 2009 to 2013 she helped form and coordinated the TREAT-NMD Advisory Committee for Therapeutics (TACT) and was subsequently the nominated first point of contact for industry enquiries to the network.

Before taking on the role as DMD Hub Manager, Emma was the RD-Connect Project Manager at Newcastle University in 2013 with responsibility for leading the strategic development and delivery of the project to ensure the objectives were achieved.

Health economist and market access expert

Fleur is a mum to Dom (who has Duchenne and is now 18).  

She is a health economist and market access expert with over 30 years experience in the pharmaceutical industry,  leading both UK and global teams at Sanofi and GSK.  A specialist in clinical trials and evidence generation for health technology assessments, she conceptualised and chairs Project HERCULES, an award winning collaboration in evidence generation for Duchenne. 

Head of Technology

Hayley is the Technology Projects Manager at Duchenne UK and currently leads on the SMART Suit and Dream Wheelchair projects. She trained as a product designer and holds a BSc (hons) degree in Engineering Product Design and MSc in Enterprise.  She has lectured on Design Research for Disability and Entrepreneurship degree courses and is the current chair of the British Healthcare Trades Association’s children’s equipment section.

Hayley joined Duchenne UK in Sept 2022, having spent the previous 8 years managing the children’s equipment charity MERU, as part of Queen Elizabeth’s Foundation for Disabled People, where she led the first scheme to introduce powered mobility to children under 5 in Northern Ireland.  Hayley has designed and produced numerous assistive products currently on the market and is committed to using design to overcome barriers and improve lives.

Before taking on the role as DMD Hub Manager, Emma was the RD-Connect Project Manager at Newcastle University in 2013 with responsibility for leading the strategic development and delivery of the project to ensure the objectives were achieved.

Professor of Neuromuscular Diseases 

Jordi Diaz-Manera is Professor of Neuromuscular Diseases, translational medicine and Genetics in Newcastle University. He was trained as Neurologist in Hospital Sant Pau in Barcelona, Spain. After 20 years working there, he moved to Newcastle to join the John Walton Muscular Dystrophy Research Center where he is combining clinical and research work. Jordi’s interest in research are imaging techniques to diagnose and follow-up of patients but also basic research understanding the process of muscle degeneration in neuromuscular diseases in order to identify new targets for drugs.  

Associate Professor of Education at the University of East London

Janet is an Associate Professor of Education and Media at the University of East London where she teaches on undergraduate, masters and doctoral programmes in the area of Special and Inclusive Education and Disability. She is a member of the Rix Inclusive Research team at UEL where she researches alongside adults with learning disabilities and differences.

Since 2008 Janet has managed Lottery-funded projects and conducted research alongside young people with DMD and their families. She is chair of the Education Working Group for DMD Care UK and is a member of the Psycho-social Working Group. 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 24-year-old son with DMD along with a 22-year-old daughter and an 19-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

Dr John Bourke 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)

Chair of the Duchenne UK board

Krishnan Guru-Murthy is the Chair of the Duchenne UK board. He is one of the main anchors of Channel 4 News.

His TV career began at 18 – and he has presented, reported and produced a number of programmes from Newsround to Newsnight.

In 2013, Krishnan arranged for a small group of friends to cycle from London to Paris on the first ever Duchenne Dash. It has grown to become Duchenne UK’s biggest and most challenging event of the year!

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.

Roald Dahl Neuromuscular Transition Nurse Specialist 

Lisa J Cutsey is the Roald Dahl Neuromuscular Transition Nurse Specialist based in Leeds and has been post for the past 5 years. The role allows Lisa to use her wealth or experience and skill in neuroscience to provide clinical knowledge and psychosocial support to her patients and families.

Lisa is a registered paediatric nurse and has an additional degree in Biosciences and Health. Her clinical background includes 26 years of working within Paediatric Neurosciences as a staff nurse, junior sister, ward manager, paediatric hydrocephalus nurse specialist and the Lead Nurse for the North East, Yorkshire and Humber Paediatric Neurosurgical Operational Delivery Network, NHS England.

She has been a member of the of the National Paediatric Neuroscience Benchmarking group for the past 17 years and has held the position of chair a number of times. She has been an active member helping to development and implement national paediatric neurosurgery nurse competencies and frameworks. Lisa has been an active advocate for patients and has been involved with many neuroscience charities. Presently she is the chair for the transition clinical working group for DMD Care UK and is a committee member for the British Association of Neuroscience Nurses.    

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.

Duchenne Patient Advocate

Saul is a 24-year-old adult living with DMD. He has a degree in Games Design and Development and is currently working on his portfolio. He also works part time as a disability consultant and enjoys playing tabletop role playing games such as Dungeons and Dragons, seeing friends and going to the cinema. 

Consultant Paeditric Neurologist

Dr Vasantha Gowda is a consultant paediatric neurologist with neuromuscular expertise based at Evelina London Children’s Hospital and an Honorary Senior Clinical Lecturer at the Faculty of life sciences and Medicine, King’s College, London. She is the lead for the paediatric neuromuscular service at Evelina and joint lead for paediatric neurosciences clinical research at the trust. Vasantha has been involved in several clinical trials in Duchenne muscular dystrophy (DMD) and other neurological conditions as the PI and CI. 

She is a member of the Research and Development Biological Safety Committee and the lead for Gene Therapies within the ATMP Delivery Board at the Guy’s and St. Thomas’ NHS Foundation Trust. 

She organizes and runs Paediatric Neuromuscular Study days, with accredited CPD points from the Royal College of Paediatrics and Child Health. 

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.