Radboud University Medical Centre
Nijmegen, Netherlands
Country
The Netherlands
Institution
Radboud University Medical Centre, NIjmegen, the Netherlands (https://www.radboudumc.nl/).
The board of Neuromuscular Centre the Netherlands strongly supports my nomination (https://www.spierziektencentrum.nl/).
Education summary
May 2008: Registration as neurologist. 2006 - 2011: Ph.D. Medicine (cum laude) Radboud University Medical Centre. 2010 - 2012: Neuromyologist Registration: Princes Beatrix Muscle Foundation Fellowship for neuromuscular disorders. 2010 – now: Staff member, medical specialist in neurology, Radboudumc. Since 2023 Full professor. 2021 - now: Chair of the European Trial Network of FSHD Europe. 2023 - now: Co-leader of the Research program Neuromuscular disorders at the Radboudumc.
Career summary
As a neurologist at Radboudumc, I have dedicated my career to improving the lives of people with NMDs, focusing on facioscapulohumeral muscular dystrophy (FSHD) and adult-onset congenital myopathies. My mission is to bridge the gap between science and patient care, ensuring research leads to real-world impact.
I co-founded the Dutch Centre of Expertise for FSHD, where we developed the first national FSHD guideline with patient input and created a multidisciplinary clinic tailored to individual needs. I have led major projects like the Dutch natural history studies FOCUS and iFOCUS, advancing understanding of FSHD genetics and outcomes, and initiated the FSHD European trial network to accelerate therapy development across Europe. Recently, I was the PI in the REACH trial and explored psychosocial effects of FSHD, developing rehabilitation strategies that empower patients holistically.
In congenital myopathies, my work has revealed that conditions like RYR1-related myopathies, nemaline myopathy, CNM, and XLMTM (in females) can present subtly in adolescence or adulthood, often with diagnostic delays. I have helped redefine these diseases as lifelong conditions, identifying novel symptoms and enhancing trial readiness.
Collaboration with patients, researchers, and clinicians worldwide is central to my approach. I strongly believe meaningful patient engagement improves both care and science. This is illustrated by my role in the research committee of ENMC, by having organized many ENMC workshops, and my role in SABs of various patient organisations. Through leadership in research and clinical practice, I strive to shape a future where all neuromuscular patients receive timely, personalised, and effective treatment.
What is the personal or professional achievement you’re most proud of?
A recent achievement I am proud of and thankful for is the launch and development of the FSHD European Trial Network (ETN) in 2021. It has transformed collaboration across Europe by uniting clinicians, researchers, and patient organizations to accelerate therapy development for FSHD. Under the leadership of FSHD Europe, the ETN has harmonized clinical standards, expanded trial capacity, and enabled cross-border studies. As a key partner in the global Project Mercury initiative, the ETN ensures Europe’s voice and expertise shape international strategy. Its work has also strengthened FSHD Europe’s role as a central force in advocacy and research. The ETN exemplifies how coordinated, patient-driven collaboration can drive real-world progress in rare disease care and treatment. As chair of FSHD ETN, I contributed to the program of the first patient meeting in Europe (FSHD Europe Connect 2025).
Why did you first join the WMS?
I first joined the WMS in 2006, when I attended the annual congress in Brugge, Belgium. At the time, I had just begun my PhD project, was completing my neurology residency, and was developing a strong interest in neuromuscular diseases. I was eager to deepen my knowledge of the field, present my early research findings, and connect with others who shared my scientific curiosity. In 2007, I returned to the WMS congress and had the opportunity to attend the pre-congress teaching course as a student—an experience that proved pivotal in shaping my academic path. These early WMS meetings gave me invaluable exposure to cutting-edge research and opened the door to an international community of clinicians and scientists. They marked the beginning of my engagement in global neuromuscular dialogue, and laid the foundation for long-standing collaborations and friendships. The welcoming and intellectually stimulating environment of WMS inspired me to continue contributing to the field—not only through research and clinical work, but also by helping build the networks that support future generations. I was honoured to be elected as the young myologist of the year in 2013, and invited to be the Prize Committee Chair a few years later. This year, I am starting as the co-chair of the WMS Pre-Congress Teaching Course, together with Jorge Bevilacqua. I am very pleased to contribute to the start of young clinicians and researchers in the neuromuscular field.
What is your goal in joining the Executive Board?
My aim in joining the WMS board is to help guide the society into a sustainable and inclusive future, particularly as we enter a new era of targeted therapies for inherited neuromuscular diseases. I am committed to strengthening WMS as a truly global platform—one that balances scientific excellence with broader representation and accessibility. This includes promoting periodic renewal of WMS board membership and NMD executive board membership, and ensuring greater inclusion of experts from underrepresented regions, without losing the recognition of longstanding leaders in the field. I believe WMS should continue to champion cutting-edge therapies while maintaining equal attention to symptomatic care—especially in resource-limited settings. I am convinced that broader and more meaningful patient engagement will not only improve the relevance of our work but also lead to better science. Enhancing the role of patients as partners, alongside creating more opportunities for young clinicians and researchers to actively shape the society’s direction, are priorities I strongly support. I want to contribute to making WMS not only a scientific leader, but also a diverse, collaborative, and future-ready community.
