Oligonucleotide-driven treatment of an inherited, childhood-lethal polyneuropathy: Generation and characterisation of a humanised preclinical mouse model
Chief Investigator: Professor Jozef Gecz
Funding Amount: $ 100,000
Recipient: The University of Adelaide
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.