The 5th Annual Dublin Cystinosis Workshop 2019 will take place at the Hilton Hotel, Kilmainham, Dublin on Friday 26th April 2019 and Saturday 27th April 2019.

This is a unique patient organisation-led scientific workshop that brings together internationally recognised researchers and clinicians from Ireland, Europe, North America and New Zealand to share recent advances in their respective fields and look at new ways to develop our understanding of cystinosis as a disease and its treatment.

As it is a closed meeting (no industry), researchers are free to present their latest scientific work with colleagues spanning a wide range of cross-cutting disciplines from basic through to translational research.

Early stage researchers and PhD students are strongly encouraged to participate in the workshop by submitting a scientific poster and/or participating in the public patient engagement event (Session Four).

The Dublin Cystinosis Workshop 2019 scientific programme span 1/2 day on Friday 26th April and a full day on Saturday 27th April 2019 has the following general themes:

  • Session OneBasic science and understanding the mechanisms of the cystinosis disease (including mechanisms of cystinosis dysfunction, pathways for drug targeting, amino acid transport systems, covering the spectrum of basic through translational research.
  • Session TwoClinical aspects of Cystinosis – Part 2 (including ophthalmological aspects of cystinosis, issues with muscle weakness [particularly as it relates to aspiration and choking] and halitosis arising from the drug therapy [cysteamine])
  • Session ThreeNew developments in therapeutics for cystinosis.  A wide variety of therapeutics are being researched, including new drugs and prodrugs, stem-cell and gene therapy, therapeutic potential of aspartate, gene editing and CRISPR technology.
  • Session FourPublic Patient Engagement Event – an opportunity for early stage researchers to present their research to patients and families living with cystinosis in an easily accessible lay language.
  • Session FiveTransitional care strategies and the social impact of cystinosis (including research on the psycho-social aspects of rare genetic diseases and chronic illness in children, adolescents and young adults, and service user engagement in health care to inform policy and practice and new multi-disciplinary approaches to rare disease healthcare)
  • Session SixClinical Aspects of Cystinosis – Part 2– Bones, kidney transplant and fertility issues (including clinical aspects of cystinosis including bone density (knock-knees and concave chest syndrome), issues around kidney transplant in cystinosis patients, azoospermia and prospective male fertility treatments.


The workshop is open to all scientists and clinicians working in the field of cystinosis and in related areas of science.

From previous experience, we expect approximately 30 scientists/clinicians to attend, all of whom are very active in the field of cystinosis research.

However, we also are keen to raise awareness of cystinosis research among researchers with relevant expertise but who are not currently involved in cystinosis research.

We strongly encourage early stage researchers and PhD students to participate in the workshop by submitting a scientific poster and/or participating in the public patient engagement event (Session Four).


The 5th Annual Dublin Cystinosis Workshop 2019 is part funded by the Health Research Board.  Cystinosis Ireland gratefully acknowledge their support.