Cystinosis Ireland is delighted to announce the joint funding of two research projects in conjunction with the Health Research Board (HRB), which is Ireland's primary health research body funded by the Irish Government, as part of the HRB Joint Funding Scheme. Cystinosis Ireland's contribution is 50% (€300,00) of the total funding over two years. This is only possible because of the generous donations received through fundraising for cystinosis, an ultra-rare, life threatening disease and the majority affected are children. 

The scheme, which had 21 applications from various health research supporting Irish charities, is highly competitive with stringent review both by the submitting charity and by the HRB’s processes.  International peer review is standard with a firm focus on Public and Patient Involvement (PPI) where lay reviewers give input as to the importance of the potential outcomes of the research.   

Speaking about the importance of the funding for the projects for Cystinosis Ireland, Chair Mick Swift said: 

“Cystinosis Ireland supports the best research we find internationally.  This Joint Funding Scheme is of huge importance as it allows us to leverage our own fundraising to double its value. All fundraising undertaken by Cystinosis Ireland is invested in research and supporting our patients and families. Being successful with two projects in this round of the competition is a validation of the work we put into collaborating with the best researchers and research in the field. The Board of Cystinosis Ireland, and our community as a whole, offer our huge congratulations to Professor Chauhan, Professor Sarwal, their collaborators and their teams on this great achievement.” 

Speaking about his research project, Prof Anuj Chauhan said: 

“I’m delighted to have been awarded this funding in the current round of the Joint funding scheme.  The work I do is of great interest to the community and will build on previous work funded by Cystinosis Ireland.  We are also very happy to have a strong PPI co-applicant, Mr Sönke Oetjen, who will work with the research team on all aspects of the project.” 

Prof Minnie Sarwal noted: 

“We are delighted to see endorsement for this important work in cystinosis and very excited to push towards developing new therapies to minimize kidney injury.” 

The Health Research Board is a State Agency under the Department of Health, supporting and funding health and social care research.  The HRB provides a stringent framework through which the applications are made and a rigorous review process where only the best projects are approved for funding.  Through the Joint Funding scheme 163 awards have been made, representing a total investment of €28 million.  Each Joint Funding Scheme award is worth up to €300,000 for a project of between 12- and 36-months’ duration and Cystinosis Ireland supports 50% of the funding of the approved projects. Cystinosis Ireland has been successful in this highly competitive scheme in recent years and that it is a very important part of our funding programme. 

Speaking about the scheme, Dr Mairead O’Driscoll of the HRB said:  

“We’re very proud that this is the twelfth round of the HRCI-HRB Joint Funding Scheme that started way back in 2006.  Including the 12 awards in this round, we have now made 163 awards in total and invested over €28 million with members of Health Research Charities Ireland.   

“We're delighted to support research that is of such direct strategic importance to charities, and that can make a real difference to people's lives." 

 The Joint Funding Scheme enables Health Research Charity Ireland (HRCI)-registered research charities to support research of particular interest to specific patient populations. The scheme provides funding for research projects in disease areas that are of strategic relevance to individual HRCI-registered research charities. 

Research projects to be co-funded between Cystinosis Ireland and the HRB:  

Title: Sustained delivery of cysteamine prodrugs from nanobarrier contact lenses. 

Lead Applicant:   Prof Anuj Chauhan.  Host Institution: Colorado School of Mines 

Co Applicants: Prof Uday Kompella and Mr Sönke Oetjen. 

Duration: 2 years.  Total Funding Request: €300,000 (Cystinosis Ireland total contribution €150,000). 

 Title: Evaluate the protective effect of Astaxanthin for the treatment for nephropathic cystinosis in a cystinotic rat model. 

Lead Applicant: Prof Minnie Sarwal. Host Institution: University of California San Francisco.  

Co Applicants: Dr Jennifer Hollywood and Dr Markus Schmitt 

Duration: 2 years.  Total Funding Request: €299,308 (Cystinosis Ireland total contribution €149,654). 

Ends 

For further information, please contact  

Denise Dunne – denise.dunne@cystinosis.ie  / 01 687 5758

Notes to the editor:  

About Cystinosis Ireland 

Cystinosis Ireland was founded in 2003 by those living with cystinosis and their families and continues to be led by people with personal experience of living with cystinosis. Cystinosis Ireland is one of the main patient organisations in Europe driving research into this rare disease.  Since its establishment in 2003, Cystinosis Ireland has supported research projects focused on all aspects of this disease to the value of €3 million either through direct funding or as a co-funding partner.  

About Cystinosis  

Cystinosis is an extremely rare, genetic, metabolic disease with life-long effects.  It is characterised by an accumulation of the amino acid cystine in organs and tissues of the body, leading to severe organ dysfunction.  Cystine is stored in the lysosome of cells. In people with cystinosis, the transporter for cystine is dysfunctional, causing cystine to build up in the cells and crystallise. The crystals quickly create toxic levels of cystine in the body, causing cellular dysfunction and even cell death. The soft tissues of the body and all organs are directly affected by this crystallisation, including the kidneys, eyes, liver, muscles, and central nervous system. At present there is no cure for cystinosis.  Treatments are available which slow the progress of the disease but these can be difficult for patients to tolerate and may be required up to four times per day.  Additional medications and supplements must be taken to replace the nutrients and electrolytes lost due to polyuria (the need to urinate very frequently).  Specific medication is required in the form of eye drops to counteract the impact of the crystal build up in the corneas of the eyes.   

Our vision: We strive for a cure for cystinosis.  Until then, we want people with cystinosis to live the best life they can. 

Our mission: We exist to raise awareness about cystinosis, support those affected by cystinosis, and invest in quality cystinosis research. 

Our values: Empathy, determination, collaboration, innovation, integrity, professionalism 

You can find more information about our work on www.cystinosis.ie