The McGill University Children’s Hospital in Montreal, Canada is still looking for participants who have cystinosis, to take part in a study they are undertaking to “better understand a special type of mutation (called a ‘nonsense mutation’) which tricks the cell into stopping production of the Cystinosin protein (the protein that is missing in cystinosis) before it is finished. These mutations are of interest because several pharmaceutical companies are working hard at developing medications that permit the cell to disregard nonsense mutations. Thus, these investigational drugs may one day offer the potential to restore Cystinosin production.
“Nonsense Mutations are estimated to account for about 10-15% of cases in other genetic diseases, but the prevalence in cystinosis is unknown and there is some evidence that CTNS Nonsense Mutations are clustered in certain regions. Looking forward, cystinosis patients may wish to know whether or not they carry a nonsense mutation. We would like to survey the cystinosis community and characterize the prevalence and distribution of Nonsense Mutations among cystinosis patients in North America and Europe. This would simply involve (prepaid) mailing a sample of saliva to our research group at McGill University Children’s Hospital in Montreal. We would analyze the sequence of your CTNS gene and let you know for future reference whether or not you carry a nonsense mutation.”
For more information please contact Dr. Murielle M. Akpa at the Research Institute of the McGill University Health Center, email firstname.lastname@example.org.