Students renew research into muscle diseases

Students Bring Innovation to Neuromuscular Disease Research

This was already the third edition of the interdisciplinary Health Challenge within the Faculty of Medicine: more than 400 bachelor's students in Medicine and Biomedical Sciences competed for the best and most innovative solution to a relevant and complex healthcare problem. This time, the theme was neuromuscular diseases, with a special focus on SMA.

Because for spinal muscular atrophy (SMA), much more research is still needed. In this hereditary disease, people progressively lose muscle strength due to a deficiency of the SMN protein. Ewout Groen, head of the Laboratory for Experimental Neurology, explains: “SMA cannot yet be cured, but there are now several treatments that really help. However, not every treatment works equally well for everyone.” In October 2024, more than 400 students tackled the issue, and the best idea from the challenge was actually implemented at UMC Utrecht in 2025.

Ewout: “We chose to name a combination of three ideas as the winner of the challenge because together they provide a clear direction to further optimize existing treatments for SMA. What makes this approach special is that the students not only contributed ideas to improve current therapies but also offered perspectives for research into treatments for similar neuromuscular diseases. Their ideas help us make treatments better, more efficient, and more accessible. They point the way forward for the next step in SMA research.”

Students Drive Innovation in SMA Research

Between April and June 2025, the combined winning proposal was carried out by 23 students from seven different programs during the elective course Experimental Translational Medicine. This research took place within the Student Research Hub network. The students collaborated in various research hubs, including Biomedicine, Biotechnology, Medical Humanities, and AI. They approached complex problems from multiple angles: lab research, computer modeling, and patient interviews. They discovered that the SMN6B protein is active in patients with SMA, offering new perspectives for treatment.

Combination Therapies as a Solution?

The students tested combinations of existing and new drugs, such as risdiplam, auranofin, and BIRB-796. They found that some combinations work better. For example, the combination of risdiplam and BIRB-796 produces more of the vital SMN protein than risdiplam alone. Another combination—risdiplam and auranofin—makes cells healthier.Student Joanne said: “I especially learned a lot about experimental techniques like cell culture, flow cytometry, and qPCR. Doing the work hands-on helped me understand and remember the methods better than just reading from books. It was special to do my own research on SMA, especially since my cousin passed away from SMA type I. That gave the project extra meaning for me.”

Student Connor was also enthusiastic about the challenge: “In my view, the biggest success was the combination of different ideas. Everyone I spoke with during my thesis had a different academic background, which brought entirely new insights and allowed me to adjust the experiments I conducted. As students, we got the opportunity to present our results to students, families, hub supervisors, researchers, and others involved in SMA at UMC Utrecht. It felt like a real honor to present in a lecture hall full of experts.”

Dialogue with the Patient

Finally, the students spoke with patients about their experiences and how their daily lives could be improved. One of the ideas was a tool for people who have difficulty swallowing. These results offer hope for better treatments and a higher quality of life for SMA patients.

Stefan Bos, a patient with SMA himself, was closely involved in the challenge and its implementation:“I think it’s very important for patients to be involved early in scientific research. It shows students what their studies and research are really for. I found the interaction with the students pleasant—they were genuinely interested. They asked practical questions about my daily life and work: How do I go to bed, for example, or how does SMA affect my work? These conversations raised awareness and led to new insights. It was great to be a part of that.”

Interdisciplinary Health Challenge Now a Permanent Part of the Curriculum

Niels Bovenschen (Professor of Research-Driven Education in Biomedical Sciences, affiliated with the Department of Pathology) and Marco van Brussel (Medical Physiologist and Associate Professor of Medical Education) are the project leaders of the Interdisciplinary Health Challenge, working through the Nieuwe Utrechtse School and its educational philosophy to design new and innovative education.

Marco: “This Health Challenge is large-scale, innovative education where students engage in interdisciplinary thinking and collaboration. It has now become part of the regular curriculum within our faculty’s programs and beyond.”Niels: “The foundation of this type of education is twofold. First, students are inspired and guided by doctors, other healthcare professionals, researchers, patients, and other stakeholders—this year around the theme of neuromuscular diseases. This helps them understand what a current, complex clinical problem is and what kind of help is needed to be of value to society. Second, students get the chance to actually carry out their research. And even during their project, they were visited by a patient with SMA.”Marco: “In this way, students are prepared for what they can expect in the future when it comes to (interdisciplinary) collaboration to approach and solve increasingly complex issues.”

Tekst on the website is in Dutch