Chief Investigator: Professor Jozef Gecz

Funding Amount: $ 100,000

Recipient: The University of Adelaide

Overview:

One in six children has disability related to brain function. The most severe neuro-disabilities are predominantly genetic and can be passed on from generation to generation. We have identified a severe, childhood-lethal genetic disorder of the brain and muscles, very similar to spinal muscular atrophy also in its frequency in our population. Using sophisticated DNA tools we can treat the disorder on a dish and potentially save lives of the affected children. As the next step towards clinical therapy for these children, we aim to generate a mouse model with the human-specific alteration so we can test our treatment tools.