Kick-off Health Challenge in Utrecht: studenten in actie voor PLN-R14del

Students from various disciplines, including biomedical sciences, medicine, and clinical health sciences, attended the kick-off on October 10th. The Health Challenge is an educational concept from UMC Utrecht that seeks to solve a problem.

This edition focuses on the hereditary heart muscle disease PLN-R14del, caused by a mutation in the PLN gene. The mutation is a missing fourteenth amino acid. Because of the mutation, the heart muscle doesn't contract properly. This can lead to cardiac arrhythmias, heart failure, fatigue, dizziness, and in extreme cases, even sudden death from cardiac arrest. 

Professor Pieter Doevendans was also present at the kick-off: "A good team consists of dreamers, visionaries, achievers, and inhibitors. Hopefully, a team will now emerge that can inject new impetus into solving the issues discussed." Professor Doevendans plays a key role in scientific research into the disease.

A broad view of PLN disease  

During the Health Challenge, a large group of students will explore how we can solve PLN-R14del disease. The PLN Foundation is involved in the Health Challenge, and we've therefore asked the students to think broadly. Therefore, they're not just looking at the cause of the disease or a new treatment option. We've also asked them to consider the ethical and societal aspects of the disease and how patients are treated. 

"On Friday, I gave a presentation on the research side and the challenges involved in encouraging students to come up with proposals and out-of-the-box ideas. I found it a very inspiring afternoon and already received many questions and ideas from students in my session," says Professor Joost Sluijter, who is closely involved in the research.

Experiences of PLN wearers 

In addition to presentations by experts in the field, carriers of the PLN mutation also shared their stories. Brigitta Madderom, a volunteer at the PLN Foundation and a transplant recipient, also gave a presentation in which she shared her story. Students in the audience were asked if they had not heard of PLN-R14del and if they would please stand.

"Most of the students stood up, and that made quite an impression on me. I talked about the progression of my illness," says Brigitta. In an informal living room setting, Brigitta and Afie Kamerling (porter) sat on a couch with Prof. Dr. Sluijter and Prof. Dr. Doevendans. Moderator Ilse Kelters facilitated the discussion. After the PowerPoint presentation and Afie's video, the students asked many questions. The women answered various questions about the diagnosis, informing family, and having children. They also discussed their preference for a particular solution, such as gene therapy or a medication. 

"I was a bit nervous at first, especially when I walked into the cinema and saw how big the room and the group of students were. It was fun; the tension dissipated pretty quickly, and I got the feeling that the students were also very interested in our story. I had a very positive experience with the afternoon," Afie explains. 

Afterward, several students approached the women to ask additional questions, such as whether more donor hearts could be a solution. This topic isn't solely related to PLN-R14del, but offers an interesting perspective on treating heart disease. "I went home tired but satisfied, because everyone was happy with how it had gone. It was also emphasized that it's crucial for students to hear patients' stories," Brigitta concluded. 

Various proposals for research

The students have several weeks to develop a proposal for solving the PLN-R14del disease. They will present these proposals to a jury. The jury (of which the PLN Foundation is a member) will select the best research. On Friday, November 7, 2025, students in the Biomedical Sciences program will pitch their proposals.

After all the pitches, the best research proposal will be announced, and this research will be conducted in phase 2 of the Health Challenge (April–June 2026). We are very curious about the results and proposals the students come up with. The PLN Foundation looks back on a fantastic first meeting!