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Edited Stem Cells Correct Kidney Disease

New research led by the Murdoch Children’s Research Institute (MCRI) has combined gene-editing technology with stem cell kidney regeneration to correct a patient’s genetic mutation. This is the first time a patient has had a kidney regenerated from their own stem cells in Australia.

The research, published in The American Journal of Human Genetics (, is part of a regenerative medicine project in which human stem cells are used to develop mini-kidneys with a view to discovering new genes and treatments for inherited kidney disease.

The researchers created stem cells from a skin biopsy taken from a 12-year-old girl who suffers from Mainzer-Saldino Syndrome, a rare genetic condition that causes progressive retinal degeneration and end-stage kidney disease. The stem cells were grown into two sets of living mini-kidney organoids – one with Mainzer-Saldino Syndrome and one in which the genetic mutation was corrected.

“Within the patient’s mini-kidneys, we discovered abnormally shaped cellular antennae. This showed that Alexandria’s disease exists within the mini-kidney and proves that we can use these regenerated tissues to learn about her disease,” said MCRI paediatric nephrologist Dr Tom Forbes.

“We then used gene-editing technology to correct the genetic mutation in Alexandria’s stem cells. These ‘gene-corrected’ stem cells were then grown into another set of mini-kidneys which showed the antennae were now a normal shape.

“So, the gene-correction stopped the development of the disease within the mini-kidney.”