Grant: Operating Grant - E-Rare-2: Innovative Therapeutic Approaches

Cystinosis is a rare genetic disease causing kidney failure in childhood and progressive deterioration of other organs later in early adulthood. Current therapies are inadequate; although disease progression is slowed, all cystinosis patients require kidney transplantation and survival past the age of 30 years is the exception. Our four groups have a track record of successful international collaboration on the pathogenesis of cystinosis. Using recently developed disease models we will identify and test a number of novel molecular and cellular reagents with the potential to replace inadequate treatments currently available.