We are extremely pleased to announce that, for the first time, we have collaborated with Cystinosis Ireland to jointly fund 2 new important research projects to a total value of €250,000.
The first research project is entitled “Analysis and exploration of novel treatment approaches for muscular disease in cystinosis”, which will be led by Principal Investigator Professor Elena Levtchenko. The research project comprises a combined total investment of €100,000 from Cystinosis Ireland and CFUK (€50,000 each) over the next two years.
Muscle weakness and atrophy are devastating conditions affecting many cystinosis patients and having a severe effect on their quality of life. Muscle dysfunction is already present in children, and slowly progresses in adulthood causing difficulties to exercise, to swallow, to talk and finally to breath.
Treatment with cysteamine postpones the occurrence of muscle disease, but can’t fully prevent or to reverse it. Therefore, search for novel therapies for cystinosis myopathy is an important item on the cystinosis research agenda.
In our project supported by Cystinosis Ireland and Cystinosis Foundation UK, we aim to explore the mechanism of muscular dysfunction in cystinosis at molecular level using state-of-the-arts technology of CRISPR/Cas9 to knockout the CTNS gene in human myoblasts. We will generate ‘mini-muscles’ to understand how cystinosin deficiency causes muscle disease, and will test novel therapies, including gene therapy, in attempt to restore the sick phenotype.
We are grateful to Cystinosis Ireland and Cystinosis Foundation UK, for supporting our research, and we are excited about the possibility to find ways to treat cystinosis myopathy.Professor Elena Levtchenko
The second research project is entitled “Treating ocular cystinosis by contact lenses”, which will be led by Principal Investigator Professor Anuj Chauhan. The research project comprises a combined total investment of €150,000 from Cystinosis Ireland and CFUK (€75,000 each) over the next two years.
We are grateful to Cystinosis Ireland and CFUK for this grant which will be critical in our efforts to develop contact lenses for treating cystinosis. This support is also invaluable because knowing that people who suffer from the disease are excited about our research makes us very passionate to deliver the lenses to the patients. Results from this grant will bring us one step closer to starting the human studies and bringing the product to patients.Professor Anuj Chauhan
Please download our full joint funding announcement by clicking the link below.