Mini-organs from stem cells used to uncover kidney disease genes

AN Australian-first breakthrough has seen mini-organs grown in a lab using the stem cells of a 12-year-old girl. With gene editing, the genetic mutation was corrected in this impressive discovery.

MINI-kidneys have been grown in the laboratory from the stem cells of a girl, 12.

And gene editing was used to correct Alex Byrne’s genetic mutation and stop disease developing in the mini-kidney.

The Australian first is an exciting step towards improving our understanding of the genetic cause of disease and developing personalised treatments.

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Researchers and clinicians in Melbourne, Sydney and Brisbane worked on the ­project, which aims to discover genes involved in inherited kidney disease and treatments.

Alex was diagnosed with degenerative vision loss at just six months old. At 5, her kidney function was at 3 per cent, and her grandmother Jolanda Byrne saved her with a kidney donation.

Alex Byrne, 12, had a kidney transplant six years ago with her grandmother Joland Byrne’s kidney. Picture: AAP

When she was 10, testing by Genetics Health Queensland revealed her poor eyesight and kidney function and restricted growth were caused by the rare Mainzer-Saldino syndrome.

The Murdoch Children’s Research Institute’s Dr Sara Howden created stem cells from a skin biopsy and used the gene-editing technology, CRISPR, to correct the mutation in her cells. Two mini-kidneys were grown in a dish, one with her disease and the other in which the defective gene was corrected.

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The research, published in The American Journal of Human Genetics, proved the organoids could be used to study inherited kidney disease.

MCRI researcher and paediatric nephrologist Dr Tom Forbes said the team planned to use the approach on other patients to discover genes responsible for kidney disease.

“If we can mass-produce the organoids, we could use them to screen drugs to work out which ones may be better for treating the disease, or for the individual patient,” he said.

Genetics Health Queensland revealed Alex Byrne’s poor eyesight and kidney function and restricted growth were caused by the rare Mainzer-Saldino syndrome. Picture: AAP

A genetic cause is implicated in around half of kidney failures in children, but little is known about its development and treatments remain scarce.

“This is all very exciting for us and while it’s not going to help her with her current condition, we hope it could in the future,” Alex’s mother, Rachel, said. “Everyone who meets Alex is inspired by her.

“She’s an engaging, courageous and tough girl.”

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