Cystinosis Ireland Research Opportunities 2019

Cystinosis Ireland Research Funding Opportunities 2019

a. Cystinosis Ireland Seedcorn Funding 2019

The Cystinosis Ireland Seedcorn Funding scheme aims to provide researchers with the opportunity to generate solid preliminary data which would contribute to a larger, sustainable, longer-term application for funding.

Researchers that are new to the field of cystinosis are particularly welcome. We also welcome applications from researchers from scientific fields other than Biosciences and Clinical Sciences where there the potential impact or application of the proposed research is relevant to patients and families living with cystinosis. This includes scientists in social sciences, engineering and other disciplines.

We are particularly open to new, high-risk, blue-sky applications and will consider these favourably (Applicants should highlight this in their application).

In particular, this seedcorn fund may be used to develop highly competitive research proposals that are suitable for submitting to a future MRCG-HRB co-funding call (see below: open for applications in September 2019)

Although typical projects funded tend to be in the region of €10,000, the Cystinosis Executive will consider applications that are for more than this (even substantially more) where the project is well justified and is relevant to patients and families living with cystinosis. All research proposals are subject to peer review.

MAXIMUM FUNDING AVAILABLE: €10,000 per project (more where justified)
DURATION OF PROJECTS: 2-6 months (longer where justified)
CLOSING DATE FOR APPLICATIONS: 1 April 2019; 2 August 2019; 29 November 2018.

Please note that this funding scheme supports researchers and research activity based outside of Ireland.

Researchers interested in this scheme should email This email address is being protected from spambots. You need JavaScript enabled to view it. for an application form and to discuss any potential applications.

MRCG-HRB co-funding scheme 2019

Cystinosis Ireland is very interested in supporting high quality research proposals to the MRCG HRB co-funding scheme. The next call for proposals is expected to open in September 2019.

Cystinosis Ireland has a strong track record of supporting research proposals for funding through this co-funding scheme and currently has two active projects underway.

MRCG HRB awards are typically in the region of €100,000 per annum for up to 3 years.

Cystinosis Ireland encourages researchers who might consider applying to this scheme to also look at the Cystinosis Ireland seedcorn fund as a mechanism to generate preliminary results and to improve the competitiveness of a potential proposal to the MRCG-HRB co-fund scheme.

Please note that this funding scheme supports researchers and research activity based outside of Ireland.

We encourage researchers to contact us at This email address is being protected from spambots. You need JavaScript enabled to view it. at any time in order to discuss your research ideas to see if it might be suitable for this funding scheme.

Background to Cystinosis and Cystinosis Ireland

Cystinosis is a rare genetic disease that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene. Cystinosis is classified as an ‘orphan disease’ by EURODIS - Rare Diseases Europe.

It is estimated that there are approximately 2,000 people worldwide diagnosed with cystinosis. As of May 2017, there are a total of 21 confirmed diagnoses of cystinosis in Ireland.

The severest form, infantile nephropathic cystinosis, causes kidney failure before the age of 10. 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 being 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.

Research areas of interest

Since its foundation, Cystinosis Ireland has supported research projects to the value of €1.9 million in areas of cystinosis research aimed at better understanding this disease, developing better treatment options and ultimately seeking a cure. In this context, Cystinosis Ireland has worked with the Irish Health Research Board (through the MRCG-HRB co-funding scheme) and it has also developed its own seedcorn funding scheme (see below for more information).

Examples of research projects that Cystinosis Ireland has supported include:

  • Drug eluting contact lenses for cystinosis therapy.
  • Developing human stem cell models for cystinosis and therapeutic potential of aspartate.
  • Unravelling the mechanisms of azoospermia and potential future treaments in Male cystinosis treatments.
  • Targeting autophagy in nephropathic cystinosis.

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

  1. Side effects of cysteamine - halitosis and body odour become major issues as children age and this interferes with the level of adherence to cysteamine. It also causes major psychological issues. Work had been done on developing new compounds but something that would work with cysteamine would be very welcome. Concern about other side effects of cysteamine – for example, Ehler Danlos-type symptoms, collagen issues and subsequent death in one patient. What other effects is it having that we don't know about?
  2. Muscle weakness - swallowing problems have led to aspiration and death in some patients plus weakness in other muscles such as hands, legs, arms. Even patients who adhere well to their drug therapy have these issues. Is it caused by cysteamine and/or the cystinosis disease?
  3. Bone Issues, including knock knees, which occur in most children whatever level of drug therapy adherence; spontaneous fractures and weak bones. Nearly all children have flat feet/fallen arches. These are in children who are well maintained on vitamin D, calcium etc and who have had diagnosis at birth.
  4. In early childhood, not eating is a major issue. Most children need a g-tube for feeding after diagnosis. There's a question as to whether the cysteamine treatment of the cystinosis itself is the main reason for lack of appetite/not eating. A lack of eating has knock-on effects for life.
  5. Developing models of care transition from childhood care to adult care in the health service.
  6. Examining the social impacts of long-term childhood disease and also the impacts of treatment(s) on patient lives.

In addition to the above, Cystinosis Ireland strongly encourages researchers that are new to cystinosis to contact us.

We welcome applications from researchers from scientific fields other than Biosciences and Clinical Sciences where there the potential impact or application of the proposed research is relevant to patients and families living with cystinosis. This includes scientists in social sciences, engineering and other disciplines.

We are particularly open to new, high-risk, blue-sky applications.

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