Cystinosis Awareness Day is held annually on May 7th to highlight the rare genetic disease of cystinosis. This day was chosen in honor of the most common cystinosis mutation: the 57-kb deletion in the CTNS gene.

As part of ORGESTRA outreach values, Roger Mora de la Serna (DC9), together with Irati Vilariño de Uriarte (a researcher living with cystinosis), joined Radio Alma to discuss cystinosis research. The interview was broadcast on 101.9 FM, Brussels, and brings together scientific insight and personal experience, highlighting the impact of ongoing research.

It can be listened to here (in Spanish):
https://radioalma.eu/bruselas/2026/03/30/la-investigacion-y-convivencia-con-las-enfermedades-raras-con-irati-vilarino-y-roger-mora/

In addition, they also wrote a non-scientific report on the results of Roger Mora de la Serna’s research, which also includes the experiences of four people with cystinosis. The report was published on different platforms:

Cystinosis Ireland (English): https://lnkd.in/gEJQQt5d

Leuven Institute for Rare Diseases (English and Dutch): https://www.kuleuven.be/ird/insight-into-rare/blogs/a-first-step-towards-understanding-muscle-weakness-in-cystinosis

Spanish Cystinosis Association (Spanish): https://www.grupocistinosis.org/investigacion-primer-modelo-miopatia-cistinosis/

Rare diseases like cystinosis often remain under-recognized and under-studied. Awareness days play a crucial role in amplifying the voices of people living with the disease, encouraging research and funding and building connections between scientists, clinicians, and families. This Cystinosis Awareness Day, we celebrate the connection between science and lived experience and reaffirm our commitment to advancing research and visibility for rare diseases.