Cystinosis Ireland is currently seeking Expressions of Interest (EOI)
Applications are now closed

             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 2021/22 HRCI/HRB Joint Funding Scheme will be formally launched by the Irish Health Research Board (HRB) and Health Research Charities Ireland (HRCI) on 1st September 2021.

Cystinosis Ireland participates in the HRCI/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.

Cystinosis Ireland is currently seeking expressions of interest from researchers worldwide who are interested in applying to this funding scheme with Cystinosis Ireland as the co-funding partner.
If you are
interested in applying please submit the following information by email to: [email protected]

  1. Title of the proposed research project.
  2. Short description of the research proposed and the potential impact for patients living with cystinosis (please use plain English for a non-scientific audience).
  3. Brief details of proposed Public and Patient Involvement (PPI).
  4. Please state if you plan to have research collaborator(s) from Ireland or elsewhere (it is not an essential eligibility criterion to have an Irish collaborator) and provide the name(s) of the proposed collaborator(s).
  5. Names of one or two potential peer reviewers unconnected with the proposed research or researchers.


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 interesting 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.


Based on previous years, the indicative timeline (exact dates will be confirmed when the call is launched) is as follows:

HRB Call Opening 1st September 2021
Cystinosis Ireland Call Open

Deadline for submitting proposals to Cystinosis Ireland is 13th October 2021

Charity Peer Review Mid October 2021 –  early January 2022
Charities forward abstracts of all
applications to HRB
January 2022
Right-to Reply Phase Mid-late January 2022
Charity Selection Committee Late January-February 2022
HRB Application Deadline  First week of March 2022 
Joint Funding Committee Meeting First week of May 2022
HRB Board Meeting June 2022
Applicant Notification July 2022
Contracts Issued September 2022
Research Project Start Date November 2022


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 Temple Street Children’s Hospital and Beaumont Hospital in Dublin as well as with the Great Ormond Street Hospital in London.  Cystinosis Ireland also maintains partnerships with other cystinosis charities abroad including; The Cystinosis Foundation UK, the Cystinosis Research Foundation (CRF) in Irvine, California, USA, the Cystinosis Research Network (CRN) in Lake Forest, Illinois, US and the Canadian foundation – Cystinosis Awareness Research Effort (CARE).  Through these partnerships, we share research findings, discuss drug access programmes, review challenges faced by the greater community and work towards finding a cure.  Cystinosis Ireland is also an active member of the Cystinosis Network Europe and EURORDIS, the European rare disease patient group alliance.