Discovery of genetic mechanism helps kids walk again

21 August 2019

One of our collaborative projects has been published in The American Journal of Human Genetics.

The project, partnered with the Sydney Children’s Hospitals Network, Kids Research, the Max Planck Institutes and the team led by our own Professor Sandra Cooper had three important outcomes.

It defined a new mechanistic basis for genetic conditions; devised a method to diagnose these conditions; and identified a group of families with the genetic variant.

This led to identifying an appropriate treatment that has so far led to the restoration of mobility for two patients.

Read more about it.