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Project

Understanding and mastering maladaptive kidney regeneration in cystinosis:characterisation of kidney progenitor cells and potential of gene therapy

Rare genetic diseases increasingly gain attention of researchers and physicians due to advances of modern science allowing profound understanding of disease mechanisms and developing curative therapies. Nephropathic cystinosis is a prototype rare disorder that has evolved from a fatal disease of infancy to a severely disabling, but treatable disorder at adulthood. Cystinosis received its name from amino acid cystine, as it is caused by bi-allelic mutations in the lysosomal cystine transporter cystinosin (CTNS). The disease compromises kidney function very early in life and eventually leads to end stage renal failure. We demonstrated that cystinosis patients continuously lose kidney epithelial cells into urine, but also shed kidney progenitor cells (KPCs), reflecting the regeneration attempt. We will characterize cystinotic KPCs and explore the potential to correct the genetic defect in these cells using gene therapy technologies, as a first step for kidney-targeted cell therapy.
Date:1 Oct 2017 →  30 Sep 2021
Keywords:kidney
Disciplines:Laboratory medicine, Palliative care and end-of-life care, Regenerative medicine, Other basic sciences, Other health sciences, Nursing, Other paramedical sciences, Other translational sciences, Other medical and health sciences