“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 gene mutation. This is the first time a patient has had kidney regenerated from their stem cells in Australia.
The research, 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.
In this new study, published in the American Journal of Human Genetics and involving hospitals and laboratories in Brisbane, Sydney and Melbourne, stem cells derived from a child with genetic kidney disease were grown into two sets of living mini-kidney organoids – one with her kidney disease and one in which her gene mutation was corrected.
The stem cells were created from a skin biopsy taken from 12-year-old Alexandria, who suffers from Mainzer-Saldino Syndrome, a rare genetic condition causing progressive retinal degeneration and end-stage kidney disease.
“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 researcher and 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.”
Alexandria’s is the first reported case in which the effect of a gene mutation in kidney disease has been investigated using gene editing of patient stem cells to correct the genetic mutation.
“The fact that we can make kidney tissue from human stem cells and then correct any genetic mutations to study the way the disease develops is a very promising step towards developing personalised future treatment,” said MCRI senior research officer Dr. Sara Howden.”