Antoni Gostynski serves within RARE-NL as the liaison from Maastricht UMC+. As a dermatologist affiliated with the Expertise Centre for Genodermatoses, he combines clinical practice with research on rare skin disorders. This dual role enables him to move effectively between patient care, scientific research, and broader collaboration within the network.

At Maastricht UMC+, Antoni Gostynski conducts research on epidermal differentiation disorders (EDD), a rare hereditary skin condition characterised by redness and scaling. His work focuses on the pathology and genetics of EDDs and how these insights may lead to new therapies. “Without a fundamental understanding of the disease, therapy development is barely possible,” he notes. “For rare diseases in particular, the academic sector has a crucial role to play.”

Strengthening connections between expertise centres
Maastricht UMC+ hosts several centres of expertise for rare diseases (ECZAs), where Gostynski sees room for deeper collaboration. “Our centres need to grow closer together. Substantive collaboration not only strengthens our knowledge base, but also our position towards insurers and policymakers.”

Reimbursement and the role of academia
In daily practice, Gostynski often encounters challenges related to off-label medicines. “There are existing treatments we believe can work, but they fall outside reimbursement. That makes care uncertain.” Within the RARE-NL network, efforts are therefore underway to explore how sustainable access to ‘repurposed’ medicines can be achieved. “Sometimes academia needs to take an extra step: collect data, substantiate effectiveness, and if needed initiate registration. We can strengthen that role even further.”

The connecting force of RARE-NL
For him, the added value of RARE-NL lies in its overarching character. “The network brings together expertise, institutions, and experiences. That is exactly what is needed to structurally improve access to treatments: collaboration, knowledge-sharing, and perseverance.”