Level of funding: Funding up to €300,000 (€100,000 p.a.)
(lower amounts will also be considered)

Duration of Funding: 12 to 36 months

The Health Research Board officially opened the 2023/24 HRB Joint Funding Scheme on 6th September 2023.

Cystinosis Ireland participates in the HRB Joint Funding Scheme in which patient organisations, such as Cystinosis Ireland, and the HRB share the cost of funding high quality research activities of particular relevance to our community.

Funding is available to researchers worldwide. Please contact [email protected] for further information.

The deadline for full applications to be received to this email address is Monday 16th October 2023 at 5pm (Irish time).


Examples of research projects that Cystinosis Ireland has supported to date include:

drug eluting contact lenses, developing human stem cell models and rat disease models, azoospermia, autophagy in nephropathic cystinosis and generation of isogenic cystinotic and healthy ciPTEC cells for more effective drug screening.

In addition to these areas, Cystinosis Ireland is also particularly interested in the following research topics:

  1. Further research into the side effects of the drug cysteamine, both physical (including the side effect of halitosis associated with cysteamine treatment) and psychological, and potential new compounds and treatments for cystinosis.
  2. Muscle weakness – swallowing problems have led to aspiration and death in some patients plus weakness in other muscles such as hands, legs, arms.  We are interested in investigating the causes of this and potential treatments/therapies.
  3. We are interested in investigating the causes and potential treatments of bone issues, including knock knees, in addition to spontaneous fractures and weak bones.
  4. In early childhood not eating is a major issue.  Most children need a g-tube for feeding after diagnosis. There is a question as to whether the cysteamine treatment or the cystinosis itself is the main reason for lack of appetite/not eating.
  5. Developing models of care transition from childhood care to adult care in the health service.
  6. Examining the social and economic impacts of long-term childhood disease and also the impacts of treatment(s) on patient lives.

Cystinosis Ireland welcomes applications from researchers from fields other than biosciences and clinical sciences, where the potential impact or application of the proposed research is relevant to patients and families living with cystinosis. This includes social sciences, health systems, engineering, and other disciplines.


Cystinosis is an ultra-rare genetic disease, a lysosomal storage disorder, that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene.

It is estimated that there are approximately 2,000 people worldwide diagnosed with cystinosis.  There are currently a total of 22 confirmed diagnoses of cystinosis in Ireland.

The severest form, infantile nephropathic cystinosis, causes kidney failure before the age of 10 without specific treatment. However, as all organs and muscles are affected in cystinosis, even with treatment, kidney failure usually occurs. Treatment is currently limited to cysteamine a cystine depleting drug which slows but does not cure the progression of the disease.    All of those diagnosed in Ireland have infantile nephropathic cystinosis.

Cystinosis Ireland was founded in 2003 as an Irish registered charity.  It was created by volunteers – family members and family friends of those living with cystinosis.  Its purpose is dedicated to raising money to fund research into cystinosis in Ireland and all over the world.

Cystinosis Ireland works closely with the CHI Temple Street and Beaumont Hospital. We are very closely connected to our cystinosis sister organisations internationally and indeed we co-fund research projects in particular with Cystinosis Foundation UK and Cystinosis Research Network (USA).

Cystinosis Ireland is a member of Health Research Charities Ireland (HRCI), IPPOSI, Rare Disease Ireland and is also an active member of Cystinosis Network Europe (CNE) and Cystinosis Community Advisory Board, as well as EURORIDS the European rare disease patient group alliance.