Research Awards Recipients

Lay Summary

About 15% of patients with any hereditary kidney disease carry a type of genetic error (a “nonsense mutation”) that blocks translation of our genetic code into a functional protein. Remarkably, a newly developed drug (ELX-02) related to the antibiotic gentamycin can bypass this block. Using cells isolated from patients with the rare disease, cystinosis, we showed that ELX-02 partially restores protein production from a nonsense mutant CTNS gene; on the strength of our findings, a clinical trial of ELX-02 in cystinosis was initiated at McGill recently. 

In this project, Dr. Goodyer proposes that ELX-02 may be able to help patients with nonsense mutations causing many other hereditary kidney diseases. To establish proof-of-principle, he will focus on a rare form of hereditary kidney stone disease, cystinuria. His team has worked out methods to isolate tubular cells from patient urine and they will use nonsense mutant cells as a model system to test ELX-02 effects. This research offers a completely new therapy for some patients with cystinuria and will open the path toward a similar strategy in many other genetic kidney diseases.