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Massimo’s Mission: closing the loop from genetic diagnosis to clinical treatment of leukodystrophies

Home All news & events News Massimo’s Mission: closing the loop…

A $3million grant from the Australian Government has enabled the expansion of the Australian Genomics Leukodystrophy Flagship to close the loop from genetic diagnosis to clinical treatment of leukodystrophies.

Activity under the expanded flagship (Massimo’s Mission) is well underway. Building on the existing clinical and research infrastructure of the Flagship, the program aims to solve more leukodystrophies through genomic sequencing, disease modelling and pre-clinical testing of targeted therapies.

Among its research activities, the program is establishing a national registry of people with diagnosed and undiagnosed leukodystrophies, in partnership with the Mission Massimo Foundation and Leukodystrophy Australia. The registry will help researchers better understand the natural history of leukodystrophies, and collaborate in gene discovery and development of novel treatments.

Massimo’s Mission has grown from strong national and international collaboration between clinicians, researchers, patient advocates and industry, and is actively involved in the Global Leukodystrophy Initiative. The research program is led by A/Professor Richard Leventer (Murdoch Children’s Research Institute & The Royal Children’s), Dr Cas Simons (Murdoch Children’s Research Institute), Professor Ernst Wolvetang (The University of Queensland) and Professor Matthias Klugmann (University of NSW).

A dedicated Leukodystrophy clinic has just commenced though the The Royal Children’s Hospital and Victorian Clinical Genetics Services, and the additional funding has enabled the appointment of clinical geneticist Dr Chloe Stutterd and research coordinator Eloise Uebergang in Victoria, as well as Postdoctoral Research Fellows Dr Dominik Froehlich (University of NSW) and Dr Mohammed Shaker (The University of Queensland).

For more, contact leukonet@mcri.edu.au


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