Research

Dublin Cystinosis Workshop

The Annual Dublin Cystinosis Workshop is an interactive forum for researchers to share new knowledge, spark new ideas and explore new research approaches aimed at better understanding and treating the ultra-rare disease of cystinosis.

You can find more details here.

Research Funding Opportunities

Cystinosis Ireland is one of the main patient organisations in Europe driving research into this rare disease.

Find out more about our research funding schemes and the areas of research that we are interested in here.

Public and Patient Involvement

Cystinosis Ireland is committed to promoting real engagement of the public and patients/families living with cystinosis in the research that we support.

Find out what Public and Patient Involvement (PPI) really is and how we can help you here.

Ongoing International Cystinosis Research

Find out more about a selection of the research that is underway worldwide into different aspects of cystinosis.

You can also see a selection of our previously funded research here.

Cystinosis Research News

Cystinosis publications

2020

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy, published March 2020 in the International Journal of Molecular Sciences by Justine Bacchetta, MD, PhD, and Irma Machuca-Gayet, PhD, Hospices Civils de Lyon, Lyon, France.
Use of Human Induced Pluripotent Stem Cells and Kidney Organoids to Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis Hollywood et al. 2020, published March 2020 in Journal of the American Society of Nephrology by Alan J. Davidson, PhD, Teresa Holm, MD, PhD, and Jennifer Hollywood, PhD, University of Auckland, New Zealand.

2019

Visual and Verbal Learning and Memory in Cystinosis, published June 2019 in Brain and Cognition Journal by Doris A. Trauner, MD, University of California, San Diego.
Interaction Between Galectin-3 and Cystinosin Uncovers a Pathogenic Role of Inflammation in Kidney Involvement of Cystinosis, published April 2019 in Kidney International by Stéphanie Cherqui, PhD, University of California, San Diego, in collaboration with Corinne Antignac, MD, PhD, Imagine Institute, Paris, France, Sergio Catz, PhD, The Scripps Research Institute, La Jolla, California, and Robert Mak, MD, PhD, University of California, San Diego and Tatiana Lobry, University of California, San Diego.
The Aminoglycoside Geneticin Permits Translational Readthrough of the CTNS W138X Nonsense mutation in Fibroblasts from Patients with Nephropathic Cystinosis, published in February 2019 in Pediatric Nephrology by Paul Goodyer, MD, The Research Institute of the McGill University, Montreal, Canada
Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells, published February 2019 in Frontiers in Endocrinology by Sergio Catz, PhD, The Scripps Research Institute, La Jolla, California
Intrinsic Bone Defects in Cystinotic Mice, published January 2019 in The American Journal of Pathology by Anna Taranta, PhD, Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children’s Hospital, Rome, Italy.

2018

A Genetic Screen for Investigating the Human Lysosomal Cystine Transporter, Cystinosin, Published online February 21, 2018 in Scientific Reports, by Anand Kumar Bacchawat, PhD, FNA, FNASc, FASc, Indian Institute of Science and Education Research Mohali, Punjab, India.
Potential Use of Stem Cells as a Therapy for Cystinosis, Published online May 22, 2018 in Pediatric Nephrology, by Stéphanie Cherqui, PhD, and Celine J. Rocca, PhD, Department of Pediatrics, Division of Genetics, University of California, San Diego.
Impaired Autophagy Bridges Lysosomal Storage Disease and Epithelial Dysfunction in the Kidney, Published January 2018 in Nature Communications, by Olivier Devuyst, MD, PhD and Alessandro Luciani, PhD, University of Zürich, Switzerland

2017

All-Purpose HSCs, Published November 30, 2017 in BIOCENTURY Innovations Journal highlights Dr. Stéphanie Cherqui’s stem cell research at the University of California San Diego.
Transplantation of Wild-Type Mouse Hematopoietic Stem and Progenitor Cells Ameliorates Deficits in a Mouse Model of Friedreich’s Ataxia, Published November 2017 in Science Translational Medicine by Stéphanie Cherqui, PhD, University of California, San Diego.

Cystinosis research archives

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Research

Dublin Cystinosis Workshop

Research Funding Opportunities

Public and Patient Involvement

Ongoing International Cystinosis Research

Cystinosis Research News

Successful Virtual 6th Annual Dublin Cystinosis Workshop 2020

Cystinosis Ireland and CRN Co-fund Male Infertility Study

New cystinosis research publication from Dr Jennifer Hollywood and team at the University of Auckland

Cystinosis publications

Cystinosis research archives

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