New Cystinosis Study – CTNS Nonsense Mutation Screen

The McGill University in Canada is looking for participants in Europe and North America for a new research study, which aims to better understand the spectrum of genetic mutations that lead to cystinosis. The study seeks to learn more about 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.

Taking part in the study involves collecting a sample of saliva at home and posting it in a prepaid envelope, to the McGill University.

For more information, and for details of how to take part, please download the document below. Cystinosis Foundation UK is not involved in running this study.

CyNoMuS Study Letter (147KB PDF file)

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