Cilia2024 Patient Workshop: patient-scientist-pharma exchange forum on cilia disease diagnosis, causes, and emerging therapeutics.

Ciliopathies are complex developmental disorders caused by defects in a hair-like structure – the ‘cilium’ – that extends from most cell surfaces. Encompassing more than 25 distinct diseases, some of which are common (eg. autosomal dominant polycystic kidney disease (ADPKD); 1:1000 individuals), ciliopathies particularly affect the kidney, eye, brain and skeleton, also causing obesity, diabetes and liver disease. The Cilia2024 patient workshop brings together patients, their representatives, clinicians, scientists, and biopharma to establish a dynamic patient-focussed forum. The workshop aims to provide critical lay-level information to patients and their representatives about ciliopathy disease. The meeting also seeks to build communication and networking relationships between patients and experts of disease diagnosis, mechanism and therapeutic resolution, and to establish patient involvement in future research strategies. The workshop will take place on September 09/10 in University College Dublin, with 75-100 attendees from across Europe and beyond. Most attendees will be ciliopathy patients harbouring diseases such as ADPKD, inherited blindness, primary ciliary dyskinesia, and multi-organ disorders such as Bardet Biedl syndrome. Importantly, the second day of the workshop is integrated with the first day of the 6th European meeting on the Biology of Cilia and Disease (Cilia2024), also in UCD (Sept 10-13). As the world’s largest meeting for cilia and ciliopathy research, Cilia2024 will attract more than 420 on-site researchers, including many world experts. Back-to-back scheduling with Cilia2024, alongside 3 patient-focussed sessions within Cilia2024, provides additional opportunities for workshop attendees to interact with the international cilia research community and learn about progress in therapy research. Altogether, a first-in-kind ciliopathy patient-focussed workshop will establish a novel forum for information exchange, networking and feedback, establishing a template for future initiatives of patient integration within cilia disease research. The workshop design can also serve as an example for other fields of biomedical science.