UCL Great Ormond Street Institute of Child Health
London, United Kingdom
Country
United Kingdom
Institution
University College London - Professor of Paediatric Neuromuscular Disorders
Great Ormond Street Hospital, London - Consultant in Neuromuscular Diseases
Education summary
Dates Detail of degree; diploma; other qualification Institution
2011 PhD in Developmental Neurosciences Catholic University Medical School, Rome
2006 Specialty in Paediatric Neurology and Psychiatry Catholic University Medical School, Rome
2001 Italian Medical Board Certification Catholic University Medical School, Rome
2000 Degree in Medicine,
Primary Medical Qualification MD (MBBS) Catholic University Medical School, Rome
Career summary
I am a dedicated academic and clinician with over 15 years of experience in paediatric neurology and neuromuscular disorders. My current position is Professor of Paediatric Neuromuscular Disorders at the Great Ormond Street Institute of Child Health, University College London, and Consultant in Neuromuscular Diseases at the Great Ormond Street Hospital in London, where I lead translational research and multidisciplinary initiatives focused on advancing the clinical care for children with complex neuromuscular conditions since 2019.
My earlier tenure as Consultant in Paediatric Neurology at the Carlo Besta Neurological Research Institute in Milan spanned a decade, during which I developed deep expertise in neurodisability and neuromuscular diseases, and I played a pivotal role in shaping the paediatric neuromuscular service.
Throughout my career, I have been committed to integrating clinical excellence with academic leadership, promoting innovation in management and treatment in neuromuscular diseases, and mentoring the next generation of paediatric neurologists. My work continues to bridge international collaboration and cutting-edge research to improve outcomes for children with neuromuscular disorders.
More recently, I have expanded my work in preclinical and translational research by investigating the cellular and molecular underpinnings of SMN-associated neurodevelopmental disorders, and in exploring new therapeutic strategies for rare and ultra-rare neuromuscular diseases.
What is the personal or professional achievement you’re most proud of?
The professional achievement I am most proud of is my sustained and evolving contribution to improving the care and treatment of children and young adults with neuromuscular diseases, particularly my work in Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD).
Over the years, I have played a pivotal role in the clinical development and implementation of disease-modifying therapies for SMA, contributing to the clinical trials that led to their approval and real-world implementation.
Beyond therapeutic innovation, I have been deeply committed to enhancing the holistic care of children with neuromuscular conditions. I am especially proud of my efforts to investigate and address under-recognised but critical aspects of care, such as bulbar dysfunction, nutritional and respiratory management, and more recently, the neurodevelopmental disorders associated with SMN deficiency. These areas have often been overlooked, yet they profoundly affect quality of life and long-term outcomes of patients. I am proud of the collaborative spirit that came from working on all these aspects.
Over time, I have had the privilege of bringing together multidisciplinary teams—clinicians, researchers, therapists, patient advocates and industry—to work collectively on these complex challenges. Seeing this network grow and observing the change in patient care has been incredibly rewarding.
Why did you first join the WMS?
I first joined the WMS because I wanted to be part of a global community dedicated to advancing the knowledge, diagnosis, and treatment of neuromuscular disorders. I wanted to get involved in a professional environment that not only favoured scientific excellence but also placed a strong emphasis on collaboration, mentorship, and patient-centered care.
I wanted to enjoy the WMS’s unique ability to bring together clinicians, researchers, and other stakeholders from around the world who share a common goal: to improve the lives of individuals affected by neuromuscular conditions.
Joining the WMS gave me the opportunity to engage with cutting-edge science, contribute to meaningful discussions, and build lasting collaborations that have enriched both my research and clinical practice. The WMS has also been a platform where I could share my own work, learn from others, and stay at the forefront of developments in the neuromuscular field.
Ultimately, I joined the WMS because I believe that progress in neuromuscular diseases can happen only through shared knowledge and collective effort, all principles that the WMS embodies.
What is your goal in joining the Executive Board?
My goal in joining the Executive Board is to actively contribute to shaping the future of neuromuscular research and care on a global scale. I am committed to upholding the highest standards of scientific excellence, while also ensuring that these advances translate into meaningful improvements in clinical care for individuals living with neuromuscular conditions.
A key priority for me is to promote equity in knowledge and access. I want to help level up the competence and expertise by supporting particularly clinicians and researchers from low- and middle-income countries, ensuring they have the tools, training, and opportunities to be at the forefront of care and innovation. This will include advocating for inclusive policies, expanding access to educational resources, and promoting international collaborations that are particularly beneficial to under-resourced settings.
I also aim to strengthen the WMS’s role in promoting best practices in clinical care by supporting training initiatives, mentorship programmes, and the dissemination of up-to-date, evidence-based guidelines. By doing so, we can ensure that all patients, irrespective of where they live, receive the highest standard of care.
Ultimately, I see the Executive Board as a platform to drive meaningful change: to connect people, elevate standards of research and equity of access, and inspire the new generation of researchers and clinicians, to benefit every patient, everywhere.
