Cystinosis is an inherited disease caused by mutations of the CTNS gene. Affected children accumulate cystine within their tissues and develop progressive renal failure during the first ten years of life. By ten years, they usually require renal transplantation and develop damage to the muscles, eyes and brain. This limits life expectancy to about 25-30 years. Fortunately, cystinosis is rare but the incidence is ten times higher among French Canadians than elsewhere in the world. It accounts for about one third of the children who require renal transplantation in Québec.
Paul Goodyer and his team have discovered that human stem cells can reverse the accumulation of cystine. These observations suggest the possibility of a new form of therapy, in which stem cells will be isolated from the patient, genetically corrected in the laboratory and reinfused into the patient.
Co-applicant:
| Nicoletta | Eliopoulos | Lady Davis Institute for Medical Research |