• Cystinosis Foundation Ireland is a member of the Irish Medical Research Charities Group (MRCG) and one of our directors sits on the Board.  MRCG is an umbrella group of medical research and patient support charities, which originally formed to represent the joint interests of charities specialising in restoring health through medical research, diagnosis and treatment and, where possible, the prevention of disease.

• MRCG along with the Health Research Board (HRB) operate a Joint Funding Scheme whereby medical research charities co-fund research in association with the HRB.  Cystinosis Foundation Ireland has been extremely successful in attracting funding for projects under this scheme.  When the scheme was first established, Cystinosis Foundation Ireland lobbied for funding to be available for research outside of Ireland.  At the time, no research into cystinosis was taking place here.  It was agreed that up to 10% of the total allocation for the scheme could be awarded outside Ireland.  This has enabled us to fund two projects outside of Ireland to date - Professor Cairn’s project on pro-drugs in Aberdeen and Dr Sarwal’s project on renal issue in Stanford University, California.  Cystinosis Foundation Ireland has been extremely successful in each year of this joint funding scheme. 

• We are now also co-funding with HRB a project in UCC under Dr Patrick Harrison and a project due to start in July 2010 in UCD under Professor Philip Newsholme.  We are particularly delighted to be funding research in Ireland, creating jobs and adding to the economy.  It has been a core aim of the Foundation to encourage Irish-based research and collaboration between Irish and international researchers.

• In the MRCG/HRB Joint Funding Scheme, both the charity and HRB provide 50% each of the funding.  This represents excellent value for money for the Government, who is the core provider of the HRB funding, and for the charity.  For 50% of the cost of a project, a expert-reviewed, high quality piece of medical research is carried out.  The Government supports the very important area of scientific research which is part of Government policy and the charities carry out all the administrative and management work for the project.

• Cystinosis Foundation Ireland presents an annual prize for students at UCC and at
Robert Gordon University Aberdeen to promote interest in the study of Cystinosis.

• The Foundation has provided funding for the UK and Irish Cystinosis Registry in Great Ormond Street Children’s Hospital.

Cystinosis Foundation Ireland are currently funding the following projects:

• Professor Don Cairns and his team at  Robert Gordon University, Aberdeen:     

  "Design and biological evaluation of novel compounds for the treatment of cystinosis"  
  
   Project time: 1st August 2008 to 1st August 2010.   Project Cost:  €95,434
   This project is not part-funded by the H.R.B.
  
   This work was published in "Science Direct" January 2008
  
   

• Dr. Patrick Harrison & his team at University College Cork:                      

        Development of an in vivo gene repair kit:  towards a cure for cystinosis 

        Project time:  1st October 2008 to 1st October 2011.  Project Cost: €148,000 - 50%
        funded by the H.R.B.

•  Professor Philip Newsholme & his team, University College Dublin, Project 1:

        "Why do cells die in Fanconi Syndrome?"

        Project time:  1st November 2008 to 1st November 2010.  Project Cost: €80,000
        This project is not part-funded by the H.R.B.

• Professor Philip Newsholme & his team, University College Dublin, Project 2:

        "Investigation into Pancreatic dysfunction and muscle myopathy"

         Project time:  21st July 2010 to 30th June 2013.  Project Cost: €196,000 - 50%   
         funded by the H.R.B.

          

•  Dr. Minnie Sarwal and Dr. Poonam Sansanwal at Stanford University, California:    

        "Investigation of the mechanism that can prevent renal injury in Cystinosis"

        
        Project time:  1st May 2008 to 1st May 2011.  Project Cost: €196,153.10 - 50%   
        funded by the H.R.B.

         Drs. Sarwal and Sansanwal's latest work has recently been published in PubMed     

    

The Scientific Committee of Cystinosis Foundation Ireland invites applications for research proposals into cystinosis, a rare autosomal recessive disease. Cystinosis is characterised by raised intracellular levels of cystine which has major systemic effects particularly in relation to renal function and other organs and muscles.

Our particular areas of research interest are:

• Orthopaedic problems and muscle wasting
• Fanconi Syndrome effects
• Effects of carnitine deficiency
• Effects and safety of pregnancy on women with cystinosis
• Stem cell research and its potential benefits in cystinosis particularly re. renal damage. (Renal damage is one of the most important causes of problems in cystinsosis)
• Effects of cystagon on collagen in the body
• Cystine crystal build-up in the eyes.