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

Alex co-founded Duchenne UK and the charity Joining Jack with her husband, former rugby league player Andy Johnson, after their son Jack was diagnosed with DMD in 2011. Through Joining Jack, Alex helped create international awareness for DMD with innovative campaigns like #Link4DMD and has played a leading role in global advocacy. 

She has served on the board of United Parent Project Muscular Dystrophy (UPPMD) and represents the DMD community at major conferences and in meetings with the FDA, EMA, MHRA, and NICE, and was a member of the MHRA Patient Group Consultative Forum. 

Alex was awarded an OBE in 2023 for her services to people with DMD.

Patient expert – Duchenne UK

I am first and foremost a devoted father to my two boys, Ben and Zak and husband to Lisa, roles that guide everything I do. Alongside being a dad, I’ve spent the past 12 years working as an Operator in Guest Services, where I’ve become known not only for my skill and reliability, but for the genuine care I bring to the people around me. Over the years, I’ve played a key role in developing high performing teams, mentoring colleagues, and helping to build a work environment grounded in trust, patience and collaboration.  

My family’s journey has also shaped my deep commitment to Duchenne muscular dystrophy advocacy when Ben was diagnosed at 4 years old. I’ve become a determined voice for families living with Duchenne, dedicating my spare time and energy to raising awareness, supporting fundraising efforts, and engaging with the community. I work closely with organisations, take part in events, and champion initiatives focused on better treatments, improved care, and greater visibility, carrying forward my belief that strong communities are built by showing up for one another. 

Whether I’m at work or supporting the Duchenne community, I try to lead with resilience, compassion, and a steady sense of purpose. My goal is always to lift others up and help drive meaningful progress, reflecting the values I strive to live by as a father, a colleague, and an advocate.

Co-founder, SVP Patient Advocacy – Solid Biosciences

Annie Ganot is the co-founder and Head of Patient Advocacy at Solid Biosciences, a precision genetic medicine company advancing gene therapy candidates for rare neuromuscular and cardiac conditions. Solid was established in 2013 in response to her son’s diagnosis of Duchenne muscular dystrophy. She leads a model of partnership with patients and caregivers in which lived experience, expertise and community priorities shape scientific, clinical, and regulatory development. Prior to Solid, Annie had a successful career in investment banking at Morgan Stanley, Deutsche Bank and Lehman Brothers in New York and London.

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. 

Duchenne Patient Advocate and member of Pathfinders Neuromuscular Alliance.

Benjamin is a determined young man living with Duchenne Muscular Dystrophy (DMD), currently pursuing his MSc in Sustainable Development at SOAS. He is a patient advocate for the Duchenne community and has contributed to the DMD Care UK working groups. He has worked with charities supporting the Duchenne community, including Duchenne UK and Action Duchenne, alongside his work with Pathfinders Neuromuscular Alliance. He previously worked in healthcare communications with Intent Health. Benjamin is dedicated to amplifying the voices of those living with Duchenne and 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 and app called Duchenne UK Connect. 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 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. 

Orthopaedic and Trauma Surgery Specialist at Newcastle upon Tyne Hospitals 

 Philip Henman is a specialist in children’s orthopaedic and trauma surgery in Newcastle upon Tyne Hospitals and has collaborated with colleagues at the John Walton Muscular Dystrophy Research Centre for many years in a clinical role.  More recently he has headed a national orthopaedic working group to produce guidelines for the benefit of patients, families and clinicians on orthopaedic and fracture management in children and young people with Duchenne Muscular Dystrophy.  

Lillehei Professor, Stem Cell and Regenerative Cardiovascular Medicine at  University of Minnesota

Rita Perlingeiro’s laboratory focuses on understanding the molecular mechanisms governing lineage-specific differentiation of pluripotent stem cells and using this knowledge to develop therapies for muscular dystrophy. By conditional expression of Pax3 or Pax7 in early unpatterned mesoderm, Rita’s laboratory was the first to demonstrate functional improvement after transplantation of embryonic stem cell (ESC)-derived myogenic progenitors in dystrophin-deficient mice (Nature Medicine, 2008).

They have shown that this strategy also enables the generation of functional skeletal myogenic progenitors from human ESC and induced pluripotent stem cell (iPSC) lines (Cell Stem Cell, 2012), and demonstrated proof-of-principle for combining patient-specific iPSCs with gene editing strategies (Molecular Therapy, 2019, Cell Reports, 2021, Cells, 2024). They have also made progress in understanding the in vitro and in vivo maturation of iPSC-derivatives (PNAS, 2019; eLIFE, 2019; Cells, 2023; NPG Regenerative Medicine, 2024; Stem Cell Reports, 2025), which is critical for in vitro and in vivo disease modeling.  

In recent years, they have devoted significant effort in developing a clinically relevant cell product for the treatment of muscular dystrophies. Following optimization of purification (Cell Reports, 2017) and large-scale production, they have recently completed cGMP manufacturing and preclinical studies of MyoPAXon (Azzag et al., Molecular Therapy, 2025), an allogeneic drug product for a First-in-Human Phase 1 Safety/Dose Escalation Trial of iPSC-derived skeletal myogenic progenitors for DMD (approved by the FDA; ClinicalTrials.gov registration number: NCT06692426), which is now open for enrolling. While this Phase 1 clinical trial progresses, essential aspects that remains to be explored experimentally are i) addressing the effect of the dystrophic environment on the maturation and long-term functional regenerative potential of human PSC-derived myogenic progenitors and ii) developing strategies to enhance systemic delivery. They have published 106 articles and have an H-index of 44 (Google Scholar).    

Retired Consultant in Neuromuscular Diseases at National Hospital for Neurology and Neurosurgery

Ros Quinlivan has been a consultant in Neuromuscular diseases since 1995 initially working in the West Midlands. In 2010 she moved to The National Hospital for Neurology and Neurosurgery at Queen Square London. By background she is a Paediatric specialist but has worked with children and adults throughout her consultant career, in the last five years she has worked solely with young adults. She has been a PI in clinical trials and natural history studies for or DMD, BMD, Myotubular myopathy and McArdle disease.

She leads a national service for metabolic myopathies and leads for transition of young people from the neuromuscular team at Great Ormond Street Hospital. She developed and leads to Neuromuscular Complex Care Centre (NMCCC) which offers co-ordinated multi-disciplinary care. Currently she leads the adult North Star Network for DMD, she is research Director for the European Neuromuscular Centre (ENMC) and has previously been chair of the British Myology Society (BMS). 

Reader in Exercise Physiology at Manchester Metropolitan University

Chris is a Reader in Exercise Physiology based out of the Institute of Sport at Manchester Metropolitan University. His involvement in dystrophy research started as a collaboration with the Neuromuscular Centre (Winsford, UK) where he completed research involving lifestyle interventions such as resistance training and dietary modification to optimise health and wellbeing in adults with muscular dystrophy. He has recently completed a hydrotherapy intervention in young men with Duchenne MD in partnership with Preston, Oswestry and Manchester hospitals (funded by Duchenne UK).

Research and Campaigns Officer at Pathfinders Neuromuscular Alliance

Sam lives independently in a bungalow in Bristol with his cat, Barry, and is supported by PAs. He has a First Class Honours degree in Human Geography from the University of the West of England. Sam has worked on a variety of projects with organisations such as Bristol Disability Equality Forum and the West of England Centre for Inclusive Living. He recently made a BBC Radio 4 production around the challenges of finding accessible housing.

Outside of work, Sam has a passion for music from all over the world and loves going to gigs and festivals. He also enjoys travelling and exploring new places in his wheelchair accessible vehicle. His other interests include: gaming, history, reading, films and going on walks in nature. 

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. 

Clinical Psychologist at the John Walton Muscular Dystrophy Research Centre

William J. Evans, PhD is an Adjunct Professor of Medicine in the Division of Geriatrics at the Duke University Medical Center and Human Nutrition in the Department of Nutritional Sciences at the University of California, Berkeley. He previously was Vice President and head of the Muscle Metabolism Discovery Unit at GSK. With an H-index of 129 and more than 85,000 citations he is the author or co-author of more than 350 publications in scientific journals and was the first to describe sarcopenia.

He is the co-inventor of the D3Creatine dilution method, a non-invasive and accurate measurement of muscle mass which is strongly related to health outcomes in older people as well as functional capacity and ambulatory ability in patients with Duchenne muscular dystrophy. His work has been featured in the PBS series, NOVA, Good Morning America, 20/20, CBS evening news, CNN, and the New York Times. Dr. Evans has been invited to testify before the US Senate Select Committee on Aging on strategies to save Medicare. He is a founding member of the Society for Sarcopenia, Cachexia, and Wasting Disorders and recently received the Lifetime Achievement Award from the International Conference on Frailty and Sarcopenia Research. 

CEO of Pathfinders Neuromuscular Alliance

Jon Hastie is the CEO of Pathfinders Neuromuscular Alliance, and lives independently in Reading supported by a team of Personal Assistants. 

He has a background in policy, communications and engagement and has worked in local government, the charity sector and the pharmaceutical industry. 

Jon founded DMD Pathfinders in 2014 with late friends Mark and Robert, and was CEO of Pathfinders from 2016-22, managing the transition to Pathfinders Neuromuscular Alliance.  
Jon has Duchenne Muscular Dystrophy. His hobbies are gaming, nature walks and movies, and he enjoys writing blogs. 

Chief Executive Officer of Disability North

Vici Richardson is Chief Executive of Disability North, a user-led disabled people’s organisation supporting people across the North of England. She has worked at Disability North for almost 16 years, spending the first 13 years within the Direct Payment Support Service, where she supported hundreds of disabled people and their families to navigate Direct Payments, Personal Health Budgets, and community care. 

 As Chief Executive, Vici contributes to national policy work on direct payments, social care charging, and welfare benefits, while also working closely with local decision-makers to improve outcomes for disabled people. 

Vici is also a mum to three children. Her eldest son, Zak, lives with Duchenne Muscular Dystrophy and was diagnosed at 18 months. Drawing on both professional expertise and lived experience, she has fought many battles to secure the right support for him and now champions systems that enable disabled people and their families to live their best lives. 

Founder and Chief Executive of Duchenne UK 

Emily co-founded Duchenne UK after her son was diagnosed with DMD. A graduate of Oxford University and former Channel 4 News and CNN International journalist, Emily launched the Duchenne Children’s Trust in 2012, which later merged with Joining Jack to become Duchenne UK.

Emily is a leading advocate for patients, representing the community at the U.S. 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 has served on the Association of the British Pharmaceutical Industry (ABPI) Patient Advisory Council, MHRA consultative forums, and the Innovative Licensing and Access Pathway (ILAP) Steering Group, and now sits on the board of the Association of Medical Research Charities (AMRC).

Emily was awarded an OBE in 2023 for her services to people with DMD. 

Clinical Development Team Lead at BioMarin

Dr Neil is a pharmaceutical physician with extensive drug development experience across both regulatory and industry environments. 

He is the Clinical Development Team Lead for the BMN351 Duchenne Program at BioMarin. 

Patient Expert at Duchenne UK

Julia is a dedicated nurse who recently completed her master’s in Infection Prevention and Control. She is also proud mum to Lucas and Charlie, two incredible boys living with Duchenne Muscular Dystrophy (DMD). Since their diagnosis in 2021, Julia and the boys are active contributors within the DMD community, participating in fundraising events, supporting research initiatives, and engaging in clinical trials to help advance understanding and improve outcomes for families living with DMD.

Parent and Health Economist 

Fleur Chandler is a health economist and health technology assessment specialist recognized for her leadership in Market Access and Health Economics and Outcomes Research (HEOR), with thirty years of experience in the pharmaceutical industry. Currently, Fleur is the founding director of Fleur Chandler Consulting Ltd, providing services to the pharmaceutical industry, patient organisations, and academic groups. In her previous roles, she led the Market Access function at Sanofi UK and Ireland, demonstrating the value of medicines to national HTA bodies and local health economies. Fleur also held leadership positions at GlaxoSmithKline, managing global evidence teams and developing portfolio value evidence generation strategies. 

Fleur is also deeply involved in patient advocacy and engagement. She is a parent of a young man, Dom, who has Duchenne. on the advisory board of Duchenne UK. She conceptualized and leads Project HERCULES, an innovative global collaborative project led by a patient organisation, which generates a disease-level evidence base for HTA in Duchenne Muscular Dystrophy. 

Chief Corporate Affairs Officer at Entrada Therapeutics

Karla MacDonald is Chief Corporate Affairs Officer at Entrada and a member of the company’s leadership team. She leads patient advocacy and helps guide Entrada’s commitment to patient-focused drug development by ensuring patients and caregivers are engaged at every step of the drug development process.

In this role, Karla is note also responsible for corporate communications, investor relations, and government affairs, with a focus on listening to and learning from patients, caregivers, and the broader healthcare community.

Karla joined Entrada in 2021. Previously, she was at Ipsen Pharmaceuticals, where she led patient advocacy and corporate communications during the company’s expansion into North America. Before Ipsen, she spent 11 years at Merck & Co., leading R&D, global brand, and corporate responsibility communications. 

Director of Research and Development at Duchenne UK

Mike Bond joined Duchenne UK in October 2025. Mike previously worked at LifeArc for 11 years in a variety of roles that encompassed research commercialisation, drug discovery and development, healthtech, medtech, venture capital and grant giving. For the last two years Mike led LifeArc’s Insights group, an 18-strong team of Ph.D.-trained Analysts responsible for project due diligence and strategic landscaping across the whole organisation.

Mike has an academic background in cell biology and pharmacology and has a career-long interest in rare disease research, having completed his postdoctoral training in rare inherited neurodegenerative disease at University College London, and working on rare disease initiatives throughout his career since moving away from academia. 

Head of Technology

Hayley joined Duchenne UK in September 2022 and leads the charity’s technology strategy and development. With a background in product design engineering, she specialises in inclusive design and healthcare products. As Head of Technology, Hayley oversees all assistive technology development programmes, driving innovation to improve the lives of people with DMD.

Beyond her role at Duchenne UK, Hayley is Chair of the Children’s Equipment Section of the British Healthcare Trades Association and serves on the Muscular Dystrophy Ireland Research Committee, contributing her expertise to advance accessibility and patient-focused solutions across the sector. 

Patient Expert at Duchene UK

Kirsty’s professional background is in Orthopaedic and spinal surgery, through her experience as a research nurse in Glasgow, and she is a member of Duchenne UK’s Patient Advisory Board. Kirsty’s sons – Owen and George – have DMD. Both Kirsty and her husband Nick are determined to raise awareness and funds for research into a cure for this devastating disease, and have set up Project GO with these aims. They are particularly focused on supporting the development of the DMD Hub, to expand clinical trial capacity for boys throughout the UK. 

Associate Director, Patient Affairs at Sarepta Therapeutics

Monique Dabbous, PhD, MSc is a Patient Affairs and Advocacy leader and professional with over 12 years of deep and intimate experience in the rare disease space with a specific and dedicated focus on neuromuscular diseases, including Duchenne Muscular Dystrophy. On the Global Patient Affairs team at Sarepta Therapeutics, Dr. Dabbous supports international efforts and relationships in Sarepta’s Duchenne program with global patient advocacy organizations and the greater global Duchenne community.

Dr. Dabbous is devoted to meaningfully engaging and connecting with the patient community, understanding the community’s needs and amplifying patient voices. Her passions further include arming the patient community with the science and information they need, ensuring families are able to make independent, informed decisions right for them. Dr. Dabbous received her Doctorate at Aix-Marseille University where her research focused on patient access to innovative therapies in rare neuromuscular diseases. Dr. Dabbous has worked and lived in the US, Middle East, and Europe.

Professor of Paediatric Neurology and the Director of the Dubowitz Neuromuscular Centre at University College London & Great Ormond Street Hospital

Francesco Muntoni is a Professor of Paediatric Neurology 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 the hospital, he led the Novel Therapies Programme of the Biomedical Research Centre and between 2008 and 2022 and also the Developmental Neuroscience Programme between 2008 and 2018. Since 2022 Muntoni is also 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 is driving forward an exciting evolving RNA and AAV gene therapy area with direct therapeutic benefits for patients with disabling neurological conditions. 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 lead 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.

Muntoni is the chief investigator of the European consortium BIND (Brain Involvement in Dystrophinopathies) focusing on the brain comorbidities observed in a proportion of patients with Duchenne muscular dystrophy, and exploring both their biological basis, clinical assessment tools and preclinical translational research.

In the last few years he obtained several international awards, including the 2022 Ottorino Rossi Award, the World Duchenne Organisation 2022 Leadership Awards, the 2023 European Paediatric Neurology Society Jean Aicardi Award and the 2024 Muscular Dystrophy UK President Award. 

Professor of Paediatric Neuromuscular Diseases at University of Oxford, UK, University of Liège, Belgium 

Laurent Servais is Professor of Paediatric Neuromuscular Diseases at the University of Oxford in the UK, and invited Professor at the University of Liège in Belgium. He graduated in medicine and pediatrics from the University of Louvain (in Louvain-la-Neuve and Brussels in Belgium) then trained as a child neurologist in the Robert Debré Hospital in Paris, France, and as a myologist at the Institute of Myology, Pitié-Salpêtrière University Hospital, Paris.  

Professor Servais’ main research interests cover innovative outcome measures and clinical trials design and newborn screening (NBS). He has been involved as Principal Investigator in several clinical trials in spinal muscular atrophy (SMA), Angelman Syndrome X-linked myotubular myopathy, and Duchenne muscular dystrophy (DMD), and in leading the NBS program for SMA NBS in Belgium and in the UK. He is the coordinating investigator of two large natural history studies in Angelman in the UK and in Belgium that aims to identify and validates innovative outcome measures and biomarkers. 

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 25 year-old son with DMD along with a 23-year-old daughter and a 20-year-old son. 

Janet is currently recruiting teachers and support staff as well as any professionals who visit schools to take part in the ‘Educate DMD’ project.

Senior Clinical Lecturer and Honorary Consultant Paediatric Endocrinologist at 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 John Walton Muscular Dystrophy Research Centre, Newcastle University

 John 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-‘26) initiatives. He has co-convened and/or participated in various European Neuromuscular Centre Workshops (2002-‘26).  

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 for the separate study of long-term follow-up of participants (2018-’23).  He was 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 Dietician at University of Glasgow

Laurie is the lead clinical research dietitian for the DMD Care UK nutrition project and co-chair of the Nutrition Working Group of DMD Care UK. She has worked extensively in public health and as a specialist paediatric dietitian, caring for children with long-term conditions. This included cystic fibrosis (CF), another rare genetic condition, for 13 years, in which she completed her PhD. She brings experience of developing nutrition education programmes and nutritional guidance and resources with, and for, children, families, and clinicians. 

Advocacy Support Officer at Duchenne UK

Lisa Kuhwald is one of Duchenne UK’s Advocacy Support Officers – this is a voluntary role. She is mum to 4 boys: Oscar, Casper, Felix and Herbie. They live in Altrincham near Manchester.  
Lisa studied Chemistry at the University of Hull and worked as a teacher and in the pharmaceutical industry. Lisa now runs the family property business in Manchester, founded by her husband Karl. 

They set up Team Felix in 2013, after their son Felix, then 2, was diagnosed with DMD. The goal is to raise as much money as possible, and as quickly as possible, to fund research into treatments to end Duchenne.

Professor of Neuromuscular Disorders at Newcastle University and Newcastle Hospitals NHS Foundation Trust

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.

Director and SEN Advisor

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. 

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

Medical Director at Santhera

Jane Barry is the Medical Director for UK and Ireland at Santhera Pharmaceuticals, bringing nearly 20 years of experience in the pharmaceutical and biotech industry. She holds a degree in Pharmacy and began her career as both a hospital and community pharmacist. Jane remains a registered healthcare professional and has leveraged her clinical and scientific expertise to lead medical strategies and support innovative therapies throughout her career. 

Duchenne Patient Advocate

Saul is a 25-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. 

Director of Policy and Communications at Duchenne UK

Katie Combes is Duchenne UK’s Director of Policy and Communications. Katie is an external affairs leader with more than 10 years’ experience as political and communications consultant. Katie’s son, Finley, lives with Duchenne muscular dystrophy (DMD) and she is passionate about creating real change for people living with DMD and their families. She became involved with Duchenne UK after advising the charity’s co-founders on a campaign to secure early access to a new treatment for patients living with DMD.  She now leads on all policy and advocacy matters for Duchenne UK and assists in the planning and delivery of campaigns and communications activity for the organisation.

Before joining Duchenne UK, Katie was Director of Communications for an influential London transport trade association helping to raise the profile of the organisation and its members, as well as working closely with civil servants and local and national government on key regulatory issues and other policy challenges facing the sector. Prior to that, she worked in public affairs and communications consultancy roles, supporting clients across the health and social care, pharmaceutical, finance, transport and education sectors to influence policy and delivering integrated public affairs and PR campaigns affecting policy change on a broad range of issues. 

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

 Volker trained as a paediatric 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 Newcastle University in 2003, where he is the Director of the John Walton Muscular Dystrophy Research Centre and Deputy Dean for Translational and Clinical Research.  

Volker 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 molecular biology technologies. 

Volker’s main activities in muscle diseases are around translational research. He was the co-founder of the EU funded network of excellence for genetic neuromuscular diseases, TREAT-NMD, and continuous to be involved in several large EU projects (ERDERA, CoMPaSS-NMD, Paladin). He is the chair of the National Clinical Group for the Advanced Therapies Treatment Centre network and the Chief/Principal Investigator for several natural history and interventional trials in DMD and other neuromuscular diseases.