Pitié-Salpêtrière Hospital, Sorbonne University & APHP
PARIS, France
Country
France
Institution
Neuromyology Department, Pitié-Salpêtrière University Hospital, APHP & Sorbonne University, Paris: Professor of Neurology, senior Neuromuscular Neurologist at the Reference Center for Neuromuscular Diseases.
Myology Research Center, UMR974 Inserm/Sorbonne University, Institute of Myology, Paris: head of the 'Congenital core myopathies' research lab.
Education summary
Universidad de Navarra (Pamplona,Spain): Medical Doctor (1993)
Universidad Complutense (Madrid, Spain): Master in Neuroscience (1997)
University Hospital “Doce de Octubre” (Madrid, Spain): Specialist in Neurology (1997)
Université Pierre et Marie Curie (Paris, France): University Diploma (DU) in Myology (1999)
Universidad Complutense (Madrid, Spain) & INSERM (Paris, France): European PhD in Neuroscience (2002)
Université Pierre et Marie Curie (Paris, France): Habilitation à Diriger des Recherches, Life and Health Sciences (2009)
Career summary
I am a Professor of Neurology at Sorbonne University, a Neuromuscular Neurologist at the Reference Center for Neuromuscular Diseases (Neuromyology Department) and the head of the ‘Congenital core myopathies’ research lab at the Myology Research Center (Institute of Myology), all located at the Pitié-Salpêtrière University Hospital in Paris.
For over 25 years, I have combined clinical care with basic, translational and therapeutic research on muscle diseases, with a particular focus on congenital myopathies and desmin-related myopathies. My work, together with my team members and with an extensive network of international collaborators, led to the first phenotypical and genetic definition of several entities, including congenital titinopathies, recessive RYR1-related myopathies, recessive desminopathies, SELENON-related myopathy or ASC1-related myopathy. Subsequently, we clarified their natural history and identified underlying pathophysiological pathways, therapeutic targets and potentially therapeutic drugs for these rare diseases. These results were at the origin of the first therapeutic trials with repurposable drugs in congenital myopathies. I contributed to defining the standards of diagnostic and care for congenital myopathies and congenital muscular dystrophies as a member of international expert panels. I was for six years (2019-2024) the Research Director of the European Neuromuscular Center (ENMC). I serve currently as an Executive Associate Editor for Neuromuscular Disorders, and as an Editorial Board Member for Neuromuscular Disorders and for the International Journal of Neuromuscular Disorders.
What is the personal or professional achievement you’re most proud of?
From the scientific point of view, it has been a challenging but rewarding journey to start investigating congenital myopathies with minicores 25 years ago, when virtually nothing was known about them. I am happy to have contributed to the identification of five culprit genes, to the definition of several new congenital myopathy entities, to translational progress and now, at last, to the stage of clinical trials for several of them. But, what I am really proud of, is the rich network of international collaborations that made this possible: progress is a collective endeavour, and it has been a great personal pleasure and extremely productive scientifically to cooperate with so many excellent members of the neuromuscular disease community over the decades, with mutual respect and trust.
I am also very pleased to have contributed to support the development of the next generation of leaders in the neuromuscular field by setting up the mid-career programme of the European Neuromuscular Center (ENMC) and reinforcing their early-career programme, together with the ENMC office. I do hope that these initiatives will contribute to attracting and keeping young talent in our field, and to empowering and supporting those who are already committed so that they can develop their full potential, rise high and open new opportunities for those who will follow them.
Why did you first join the WMS?
I attended my first WMS meeting in Antalya in 1999, introduced by Prof Michel Fardeau, to present the first results of my PhD work on congenital myopathies. I was impressed by the very international yet very close and collaborative atmosphere at the meeting. I also felt very welcome and inspired by both my young peers and by the more established pioneers in the neuromuscular field. So I immediately felt a member of the WMS family, and have remained so since then.
What is your goal in joining the Executive Board?
I would like to put the transversal experience that I have gathered over the last decades at the service of our NMD community. My experience as the ENMC Research Director made me realise how much I enjoy serving in international, multidisciplinary settings, and bringing people together to foster collaboration, scientific excellence and progress. It is extremely exciting to see how quickly the neuromuscular field is changing and evolving. The arrival of new therapies, approaches and actors brings about fantastic opportunities, but also new challenges. I think that it is particularly important at this point to promote open, collaborative and multidisciplinary dialogue between the different stakeholders (academy, patients and PAOs, industry, policy makers), while keeping alive the friendly and trusting atmosphere of the WMS. I am also particularly interested in supporting the next generation of leaders in the field (now at the mid-career stage) and in attracting and keeping young (early career) talents from all horizons. Aside from their training in scientific/medical excellence, leadership and soft skills, I would like to contribute to an inclusive, equal and safe environment for all generations. Finally, I would be very happy to contribute to liaise the WMS with other important international initiatives in the neuromuscular field, as I have done in the past, to promote collaborative efforts.
