Cystinosis Ireland Research Grants Awarded

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 €1.9 million either through direct funding or as a co-funding partner with Ireland’s national health research funding agency, the Health Research Board.

  1. Safety and efficacy of cysteamine loaded contact lenses – Prof Anuj Chauhan, Colorado School of Mines, Colorado, US – Amount Awarded: €150,000.  This project is co-funded on a 50:50 basis with Cystinosis Foundation UK.
  2. Study of muscular disease in nephropathic cystinosis – Prof Elena Levtchenko, UZ Leuven, BE – Amount Awarded: €100,000.  This project is co-funded on a 50:50 basis with Cystinosis Foundation UK.
  3. Clinical and Molecular Assessments of Male Infertility in Cystinosis – Prof Minnie Sarwal, UCSF, California, US – Amount Awarded: €300,000.  This project is co-funded on a 50:50 basis with Cystinosis Research Network (US).
  1. Serum IgG Glycosylation in Cystinosis (SIGIC) – Prof Atif Awan, CUH Temple Street & Dr Roisin O’Flaherty, NUI Maynooth, Ireland – Amount Awarded €10,000.
  1. Literature review of cystinosis and key areas – Michael Deane, University College Cork, IE – Award Amount: €4,356 (Summer studentship)
  2. IMPACT Study – Dr Katharina Hohenfellner, Klinik für Kinder- und Jugendmedizin – Kindernephrologie, DE – Award Amount: €20,000
  3. Biomaterial-mediated delivery of CTNS gene for ocular cystinosis – Dr Valeria Graceffa, Institute of Technology, Sligo, IE – Award Amount: €9,990
  1. Characterisation of a novel cystinosin transporter knockout rat model – Dr Manoe Janssen, University of Utrecht, NL – Award Amount: €10,000
  2. A pilot study to holistically target dysfunctional pathways in cystinosis: Drug repurposing with gene expression connectivity mapping – Dr Shu-Dong Zhang, University of Ulster, Northern Ireland – Award Amount: €9,908
  3. Endogenous tagging of CTNS using CRISPR/Cas9 – Professor Elena Levtchenko, UZ Leuven, Belgium – Award Amount: €10,000
  1. Targeting Autophagy in Nephropathic Cystinosis: generation of CTNS mutant cell lines by CRISPr/Cas9 gene editing – Dr James Murray, TCD, Ireland and Professor Minnie Sarwal, University of California, San Francisco, USA – Award Amount: €8,600
  2. Characterisation of a novel cystinosin transporter knockout rat model – Dr Jennifer Hollywood, University of Auckland, NZ – Award Amount: €10,000
  1. Dose Escalation Study to Demonstrate Safety of Cysteamine Releasing Contact Lens – Professor Anuj Chauhan, University of Florida, USA – Award Amount: €10,000
  1. Unravelling the mechanisms of azoospermia and potential future treatments in male cystinosis patients – Professor Elena Levtchenko, UZ Leuven, Belgium – Award Amount: €200,000
  2. Targeting Autophagy in Nephropathic Cystinosis – Professor Minnie Sarwal, University of California, San Francisco, USA – Award Amount: €300,000
  1. Drug Eluting Contact Lenses for Cystinosis Therapy – Professor Anuj Chauhan, University of Florida, USA – Award Amount: €72,000
  2. Modelling Cystinosis with Human Stem Cells and the Therapeutic Potential of Aspartate – Professor Alan Davidson, University of Auckland, NZ and Dr Patrick Harrison, University College Cork, Ireland – Award Amount: €288,000