Cystinosis Ireland held the 9th annual Dublin Cystinosis Workshop and Family Workshop on 13 – 16 April 2023 in Barretstown, Co Kildare.  The events also marked our 20th anniversary.  The weekend was a huge success with more than 100 members of our community – patients, families, researchers and scientists – coming together to share, learn and have some fun.

The Dublin Cystinosis Workshop is an interactive forum for researchers to share knowledge, spark new ideas and explore new research approaches aimed at better understanding and treating cystinosis.  This year’s themes were: 1) Evolution in mechanistic / pathogenic insights in cystinosis, 2) Innovative treatment approaches/ Innovation in treatment and 3) Novel clinical aspects. The Workshop heard from researchers and clinicians from the USA, Canada, New Zealand, UK and Europe (including Ireland) who shared insights and most recent findings as efforts continue to identify new drug targets and effective therapies for cystinosis and ultimately to find a cure for this ultra-rare disease.  As part of our poster presentation, Louise Medaer of Katholieke Universiteit Leuven, was awarded the Professor Roz Anderson Memorial Prize for her presentation of her work on S Isogenic human cell models to unravel the underlying mechanism of cystinosis myopathy.

The Family Workshop was fun filled and action packed. Adult patients, parents and caregivers were given the opportunity to engage with our research and clinical colleagues to learn more about areas of importance to the community including therapy development, new areas of research and potential treatments of the future.  Our families also engaged with our research community to discuss current research projects and gain a greater understanding of the research process.  Our up and coming researchers were challenged to explain their work to a lay audience, who voted on the best presentation.  The Cystinosis Ireland Award for Best Oral Presentation to a Non Scientific Audience was awarded to Hayley Chang of the Frederick J. and Marion A Schindler Cognitive Neurophysiology Lab (CNL), University of Rochester School of Medicine and Dentistry, New York, for her work on Development and Characterization of a Cystinosis Knock-Out Mouse Model Using CRISPR/Cas9.

While the adults were learning and sharing their perspective with the scientific attendees, the children were enjoying activities including archery, fishing, canoeing, wall climbing, crazy golf, movie making and prank parties.  The sun shone and screens were abandoned for an opportunity to make new friends and try new experiences.  The Barretstown team were invaluable in supporting the children to enjoy every moment of the weekend.

Cystinosis Ireland is very grateful to all involved in putting this weekend together: the DCW Scientific Committee, under the guidance of Dr Koenraad Veys; our Support Committee; and our staff, as well as the staff and volunteers of Barretstown.

Please note, attendance at the Dublin Cystinosis Workshop is by invitation only.  If you would like to attend a future event, please email [email protected] for more details.