It was our pleasure to host the second national CilNetNL meeting in the UMC Utrecht on Saturday November 1st. The theme this year was Pathomechanisms and Therapies. We had a great turnout of patient representatives, physicians and scientists. The Joubert Syndrome Netherlands Foundation, Joubert Syndrome Parent Contact Group, Dutch Kidney Patient Foundation (NVN) and Bardet-Biedl Syndrome Foundation were all represented!

Professor John Sayer from Newcastle shared the latest developments in research investigating genetic therapies for Joubert syndrome. His studies focus on different genetic therapies in patient-derived cells and mouse models with DNA variants in the CEP290 gene. Various researchers shared their work on therapy development for the kidney disease nephronophthisis, retinal disease and obesity that can occur in ciliopathies. Scientists investigating primary ciliary dyskinesia were also present for the first time and showed impressive videos of cilia moving in the airways. 

In the afternoon, we formed groups to brainstorm about the requirements for therapy development in the Netherlands, for example good, centralized data- and biobanks, and the involvement of patients and parents in the design of clinical trials.
We look back on a successful day with lots of interaction. We thank all participants!   

We have invited national ciliopathy networks from other countries to meet with us at the Cilia2024 conference, to strengthen the international patient network and explore opportunities for collaborations within Europe and the ERNs.

Cilia2024 (hybrid) is the 6th running of the biennial European Cilia research meeting, taking place on September 10-13 in Dublin, Ireland. As the world’s largest scientific meeting for cilia and flagella research, Cilia2024 will bring together cilia researchers, clinicians, patients and patient representatives from across the globe, partaking in a wide ranging programme incorporating 11 scientific sessions, 4 keynote lectures, 35+ oral presentations, 22 flash talks and 3 poster sessions.

During the one day CilNetNL Conference 2023 transdisciplinary lectures of researchers, doctors, patient organizations, and parents of patients were given. This fruitful event led to the continuation of the Ciliopathy Network Netherlands and correspondingly this website.