Dublin Cystinosis Workshop 2025

The Dublin Cystinosis Workshop 2025, held at the Royal Marine Hotel in Dún Laoghaire, Dublin, focused on the theme “Kidney aspects of cystinosis - emphasizing research development.” The event spanned two days, Thursday, 24th April and Friday 25^th April, bringing together scientists, researchers and clinicians. The final day, Saturday 26^th April  was dedicated to the families, with a special agenda designed to address their needs and concerns.

Dr Koeraad Veys Chair of the DCW Scientific Committee and Anne Marie O’Dowd, Chair  Cystinosis Ireland Research Committee warmly welcomed attendees, noting the unique nature of the workshop in bringing together global experts and families affected by cystinosis. They emphasized the importance of collaboration, and the diverse expertise present at the workshop. This year's focus on kidney aspects of cystinosis aimed to address crucial concerns for the cystinosis community, particularly in maintaining renal health and quality of life.

Day 1: Thursday, 24th April 2025

The workshop commenced with the arrival and registration of scientists and researchers. The first session, chaired by Prof Bert van den Heuvel, explored newborn screening, featuring presentations from Avril Daly (EURORDIS), and Marcel Nelen (UMC Utrecht). The afternoon sessions, chaired by Jennifer Hollywood, delved into novel approaches for preventing the progression of cystinosis kidney disease, including mRNA-based therapy, lipid nanoparticle-based mRNA therapy, inflammasome and inflammation, mTOR inhibition, natural flavonoids, and ketogenic diet. The day concluded with a keynote by Prof Simon Heales on the ketogenic diet in disease treatment and a presentation on funding opportunities by Martha Cahill (Enterprise Ireland).

Day 2: Friday, 25th April 2025

The second day began with a keynote by Markus Rinschen (Aarhus University) on kidney metabolism in health and disease, followed by a presentation by Sante Princiero Berlingerio (Emma Children’s Hospital, Amsterdam) on improving energy metabolism in cystinosis kidney cells. Subsequent sessions, chaired by Koenraad Veys, covered kidney regeneration, future kidney replacement therapy perspectives, and kidney disease modelling, with speakers from Radboud UMC Nijmegen, Amsterdam UMC, University of Bristol, and Utrecht University. The afternoon session, chaired by Francesco Emma, provided clinical perspectives in cystinosis, including updates on cysteamine prodrug CF10, S3-Guideline for Cystinosis, and desmopressin treatment. The day concluded with updates from Cystinosis Ireland funded research projects, featuring presentations by Roger Mora (KU Leuven), Joyce Senior (UCD), Swastika Sur (UCSF) and Anuj Chauhan (Colorado School of Mines).

Just before the scientific poster session, closing remarks were from Mick Swift, Chair of Cystinosis Ireland, who highlighted the growth of the workshop since its inception in 2014. He emphasized the workshop's role in fostering knowledge sharing, building relationships, and developing networks to advance cystinosis research. The workshop featured 19 speakers, five poster presenters, and updates from four projects funded by Cystinosis Ireland. Mick expressed gratitude to the organizing committee, chaired by Dr. Koenraad Veys, and was grateful to an engaging and productive event.

Prize Winners

The workshop celebrated outstanding contributions with two prizes:

• The Prof Roz Anderson Memorial Prize for Best Scientific Poster: Awarded to Wiktoria Palka, undergraduate student working with Dr Jennifer Hollywood in UCC.

• Cystinosis Ireland Prize for Best Oral Presentation to a Non-Scientific Audience: Awarded to Sante Princiero Berlingerio from Emma Children’s Hospital, Amsterdam.