NHMRC-MRFF AR LEUKODYSTROPHIES FLAGSHIP “The Massimo Mission”

Around 50 types of leukodystrophy (white matter disease) have been identified to date. There are currently no cures for leukodystrophies, life expectancy is a few years, and quality of life is extremely poor. Starting with the white matter “hypomyelination with brain stem and spinal cord involvement and leg spasticity”, a disease caused by mutations in a gene called DARS we aim to fully unravel the pathogenic mechanisms underlying the disease and test therapeutic options for this condition by leveraging in vitro and in vivo HBSL patient models. This establishes a research framework, clinical research teams and biopharmaceutical industry facing platform that can deliver treatments for existing and newly discovered leukodystrophies.