University of Newcastle
Newcastle upon Tyne, United Kingdom
Country
England, United Kingdom
Institution
1. John Walton Muscular Dystrophy Research Center, Newcastle University: Professor of Neuromuscular Diseases.
2. Newcastle Upon Tyne NHS Trust: Honorary Consultant Geneticist
Education summary
1) Degree in Medicine: Universitat Rovira i Virgili, Tarragona, Spain
2) Neurology specialist: Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
3) PhD in Medicine: Universitat Autonoma de Barcelona, Barcelona, Spain
Career summary
After completing my training as a neurologist, I spent 20 years at the Neuromuscular Disorders Unit at Hospital Sant Pau in Barcelona, under the mentorship of Prof Isabel Illa, who inspired my commitment to translational research. There, I was responsible for the diagnosis and long-term management of patients with both inherited and acquired myopathies. During this time, I developed a strong interest in both clinical and basic research, and I had the opportunity to work closely with biologists in the laboratory, learning essential experimental techniques.
I completed my PhD between Barcelona and Milan, spending 18 months in Prof Giulio Cossu’s lab at the Stem Cell Research Institute, Ospedale San Raffaele. My doctoral research focused on developing novel diagnostic and therapeutic approaches for dysferlinopathy and was awarded cum laude with a special distinction from the university.
As a consultant in the Neuromuscular Unit, I helped build a multidisciplinary team combining medical doctors and basic scientists to advance translational research. Our work aimed to better understand the mechanisms of muscle degeneration in muscular dystrophies—ranging from MRI-based quantification of muscle damage to identifying molecular pathways involved in fibrosis, with the goal of uncovering new therapeutic targets.
In 2020, I joined Newcastle University as Professor of Neuromuscular Diseases. My research now has a stronger focus on laboratory-based science, particularly the application of cutting-edge transcriptomics and proteomics techniques to patient muscle samples. These technologies are revealing new mechanistic insights into the pathophysiology of muscle diseases.
Despite my research focus, I remain clinically active and maintain strong collaborations with patient advocacy groups worldwide. I have served as coordinator of the Neuromuscular Disorders Study Group of the Spanish Society of Neurology and as a member of the Executive Committees of several academic organisations, including the Catalan Society of Neurology, Myo-MRI, and EPOC. Most recently, I have been an active member of the World Muscle Society Executive Board, where I lead the Social Media Committee.
What is the personal or professional achievement you’re most proud of?
From a professional perspective, I am particularly proud of our recent work in the lab identifying new molecular targets to block the fibrosis process in muscular dystrophies. Specifically, we have demonstrated that the PDGF receptor alpha is a promising target to inhibit the proliferation and differentiation of fibroadipogenic progenitor cells in muscle. We have identified several candidate drugs that significantly reduce fibrosis in animal models of muscular dystrophy, and we are now working toward translating this research into clinical trials for patients. This project reflects years of collaborative, translational work and offers real therapeutic potential for conditions with few treatment options.
On a more personal—but still professionally relevant—note, I take pride in my innate curiosity and drive to continuously learn. This mindset has allowed me to explore a broad range of topics, from advanced imaging techniques like MRI to fundamental bench research, giving me a holistic perspective that complements more specialised expertise. I also thrive in roles that require coordination and leadership across diverse teams. Two examples I am especially proud of are LatinSeq (www.latinseq.org) and MyoGuide (www.myoguide.org)—international, multicenter academic initiatives aimed at improving the diagnosis of neuromuscular diseases globally. Leading these efforts has allowed me to connect with professionals and institutions worldwide, reinforcing the importance of equity, access, and collaboration in science and medicine.
Throughout my career, I have mentored young clinicians and researchers, and I believe the WMS can play a stronger role in supporting the next generation of neuromuscular experts, especially in regions where access to training and resources is still limited.
Why did you first join the WMS?
I joined the WMS because it felt like the natural next step in my professional journey. At that point, I was working as a consultant neurologist specialising in neuromuscular diseases and actively engaged in both clinical and basic research. The WMS offered exactly what I was looking for: a community of people who shared my interests, a place where I could learn from leading experts, exchange knowledge, present our research, and build meaningful collaborations.
From the very beginning, I saw the WMS as more than just a scientific society—it was also a space to connect with colleagues, make friends, and yes, enjoy the experience of being part of a vibrant, supportive, and inspiring global network.
What is your goal in joining the Executive Board?
My goal in joining the WMS Executive Board is to help build a more inclusive, globally representative, and forward-looking Society. I believe that the strength of the WMS lies in its diversity of origins, disciplines, perspectives, and experiences. As someone who has worked across different environments and cultures, I bring a global perspective that reflects the varied needs of WMS members in different regions.
I am committed to ensuring that the WMS continues to grow as a welcoming community for all professionals involved in the care of individuals with neuromuscular diseases, clinicians, health professionals, and researchers, from both basic and clinical sciences. The annual Congress should be a place where every voice is heard, and where people feel encouraged to share their ideas, research, and challenges.
To me, the WMS is more than a meeting; it is a space for mutual learning and support. I want to help foster an environment where everyone, regardless of gender, race, language, beliefs, or age, feels safe and respected. I believe we must actively promote the exchange of knowledge across borders and disciplines.
I would like to see the WMS evolve beyond the annual Congress and become a truly global and year-round network, supporting not only professionals but also patients, families, and caregivers. My goal in joining the Executive Board is to contribute to making this vision a reality. In this sense, I would like to contribute to expanding educational resources year-round, creating mentorship opportunities for early-career professionals, and strengthening collaborations with patient groups globally.
With a deep commitment to translational research, global collaboration, and patient-centred care, I hope to contribute to the WMS as a proactive, inclusive, and strategic voice on the Executive Board.
