Finding cures for children's genetic diseases


Gene therapy for genetic liver disease could help children within five years


A senior research officer in the Gene Therapy Research Unit, together with PhD student Anais Amaya, has found a way to repair mutated cells in the livers of children with Urea Cycle Disorders – which could be in the clinic within five years.

Dr Samantha Ginn’s paper on this finding was just published in the Journal of Hepatology Reports.

Dr Ginn found, for the first time, that one correction of a disease-causing mutation in the liver  would provide therapeutic benefit for even the most therapeutically challenging liver disorders.

“It was what we were hoping for, but we were still surprised at how well it worked,’’ Dr Ginn said.

CMRI’s Gene Therapy Research Unit has been collecting the livers for research purposes from sick children removed at the time of their transplant, including from Charlize Gravina, one of the faces of Jeans for Genes campaign.

Dr Ginn went into the DNA and make a change so there was a permanent solution.

“We saw a change within two to three weeks,’’ Dr Ginn said. “The change happened relatively quickly.’’
The research, which involved several different research units at CMRI working together collaboratively, will
now be expanded.

“It will be very clinically relevant. We’ve learnt a lot from this study, and now we want to work on an application with broader utility to correct more genetic conditions.”

 “This could be an alternative to a liver transplant, but it could also be used while patients are waiting for a liver as a way of buying them time. Five years would not be unrealistic to get this therapy to the clinic.’’