Researchers in Prof Rik Gijsbers’ lab, including PhD students Roger Mora de la Serna and Irati Vilariño de Uriarte, have developed the first human muscle cell model for cystinosis myopathy. Using gene editing to inactivate the CTNS gene, they observed impaired early muscle cell development, which was reversed upon reintroduction of a functional gene.

This model provides a platform to study the underlying mechanisms of cystinosis myopathy and to test potential therapeutic approaches, including gene-based strategies.

You can read the full paper here.

Jointly funded by @CystinosisFoundationUK this work represents a significant step toward understanding and ultimately treating muscle involvement in cystinosis.