Cystinosis Ireland is delighted to announce the joint funding of a research project at the University of Auckland, led by Prof Alan Davidson, in conjunction with the Health Research Board (HRB), as part of the Health Research Charities Ireland (HRCI) Health Research Board (HRB) Joint Funding Scheme.  Cystinosis Ireland's contribution is 50% of the total funding over two years. This is possible because of the generous support we receive through fundraising. 

Health Research Board (HRB) is Ireland’s lead funding agency supporting innovative health research and delivering data and evidence that improves people’s health and patient care and is funded by the Irish government. 

Cystinosis is an ultra-rare, life-threatening disease diagnosed in childhood.

The HRCI-HRB Joint Funding Scheme received 22 applications from nine Irish charities. It’s a highly competitive process with stringent reviews by the submitting charity and the HRB.  International peer review is standard with a firm focus on Public and Patient Involvement (PPI) where non-scientific 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 invests in the best research internationally.  This Joint Funding Scheme is of significant importance as it allows us to leverage our own fundraising to double its value. All fundraising by Cystinosis Ireland is invested into research and supporting people living with Cystinosis and their families. Success with this project is a validation of our work in collaborating with researchers globally. The Board of Cystinosis Ireland, and our community as a whole, offer our congratulations to Professor Davidson, his collaborators and their teams.”

Speaking about his research project, Prof Davidson said:

“While cysteamine remains the main treatment available for cystinosis, it does not fully prevent progressive kidney damage. I am excited that this funding will allow us to investigate whether inflammation, driven by a molecule called IL-6, contributes to this ongoing injury and whether targeting this process could provide a new therapeutic approach for patients. I am deeply grateful to Cystinosis Ireland, the HRB, and the patients and families whose support has made this research possible."

The Health Research Board is a State Agency under the Irish Department of Health, supporting and funding health and social care research. 

Health Research Charities Ireland (HRCI) is the national umbrella organisation of charities engaged in health, medical and social care research, collectively representing over 2 million people in Ireland.

The HRCI-HRB Joint Funding Scheme provides a stringent framework through which applications are made and a rigorous review process where only the best projects are approved for funding.  Through the Joint Funding scheme 177 awards have been made, representing a total investment of €31 million since its inception. 

Each Joint Funding Scheme award is worth up to €300,000 for a project of between 12- and 36-months’ duration and the supporting charity provides 50% of the funding of the approved projects.

Cystinosis Ireland has been successful in this competitive scheme since its inception, which has been and continues to be a very important part of our long-term research investment strategy.

Speaking about the scheme, HRB Chief Executive Gráinne Gorman said:

“These projects demonstrate the strength of research shaped by the needs and experiences of patients, families and communities. The wide range of research topics being funded highlights the value of the HRCI partnership in supporting research that can improve health and care outcomes."

The Joint Funding Scheme enables 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 project to be co-funded between Cystinosis Ireland and the HRB:

Title: Targeting IL-6 in cystinosis: Preclinical studies in the Ctns-/- rat           

Lead Applicant:   Prof Alan Davidson                

Host Institution: University of Auckland

Co Applicants: Dr Jean Koh, Ms Tamara Thornton-Butler and Dr Thitinee Vanichapol

Duration: 2 years.  Total Funding Request: €199,976.79 (Cystinosis Ireland total contribution €99,988.40).

For further information, please contact Denise Dunne – denise.dunne@cystinosis.ie  / +353 87 2450660

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 2003, Cystinosis Ireland has invested in research projects focused on all aspects of this disease to the value of €3.8 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 or contact Denise Dunne, denise.dunne@cystinosis.ie