In this series of interviews, we introduce the people driving the mission of RARE-NL. Today: Prof. Dr. Wendy van Zelst-Stams.

“As a clinical geneticist and professor of care for patients with rare diseases, I have long been involved in implementing the latest technological advancements to improve DNA diagnostics. In this capacity, I also became engaged in the policy and care surrounding rare diseases. In 2009, the European Commission issued a directive to improve this area of healthcare. Even before the Dutch National Plan for Rare Diseases (NPZZ) was launched, I was appointed coordinator in this field by Radboudumc in 2013. The NPZZ led to a mandate from the Ministry of Health, Welfare and Sport (VWS) to the Dutch Federation of University Medical Centers (NFU) to develop a procedure for designating centers of expertise for rare diseases. I was appointed project leader for that initiative.

The designation of these centers took place across Europe and enabled the formation of European Reference Networks (ERNs). These are thematically organized networks of expert centers that aim to improve patient care by sharing, expanding, and applying knowledge. This allows expertise to travel—so the patient doesn’t have to. Increasingly, ERNs also enable patients to participate in clinical trials on a European scale, allowing research to be conducted on a broader level. Without a doubt, ERNs are among the most successful European healthcare collaborations.”

Personal motivation

“My interest in rare diseases was sparked by a boy who attended swimming lessons with my eldest daughter when I had just begun my clinical genetics training. He stood out due to his motor skills, large head, and height—much taller than his parents. I noticed something was off, but couldn’t identify it at the time. Years later, when my youngest daughter was taking her diploma C test, I saw the boy again and recognized his condition. I struck up a conversation with his father, who had only recently found out what was going on with his son, thanks to a chance encounter. I was deeply impressed by their journey—especially by how long it can take to receive a diagnosis and take further steps. It really emphasized for me how essential it is that knowledge about rare diseases is both available and accessible. This is reflected in the centers of expertise, but also in my role as Professor of Care for Rare Diseases. There, we focus on organizing diagnostics as the starting point of a care pathway: what tests and coordination are needed to enable swift and appropriate action? We’ve managed to reduce that timeline by up to a year or more. That’s a huge gain for parents. Once a diagnosis is made, they find clarity. The guilt that often lingers disappears, they can participate in additional scientific research, consider family planning, and so on.”

Supervisory role

“My role mainly lies in the area of care and therapy development. In Europe, I contribute to this—together with the Ministry of Health—by supporting and advancing the ERNs. Just as the NFU, with European support, has improved collaboration between Dutch university medical centers in the area of rare diseases, RARE-NL should now take up that role when it comes to the availability of treatments—including drug repurposing. I see RARE-NL as a knowledge broker: an organization that supports and advises researchers on socially responsible therapy development. It should bring the right experts together when needed and ensure that we’re not reinventing the wheel time and again. As a member of the supervisory board, my responsibility is to ensure that all university medical centers are involved. A great deal of knowledge already exists; success now hinges on visibility and timely response to questions. RARE-NL is a wonderful initiative, and we all share responsibility to make sure it works well—and results in the therapies our patients so urgently need.”