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The leukodystrophy flagship – Massimo’s Mission

Home Research we’re supporting The leukodystrophy flagship – Massimo’s…

Leukodystrophies are a group of life-threatening conditions affecting the formation of myelin— the insulator around nerve fibres in the brain’s white matter— much like electrical wiring.

There are currently no cures for most leukodystrophies, but genomic technology offers new hope of better outcomes for people with the condition and their families.

Massimo’s Mission is a comprehensive, multi-disciplinary research study working to ‘close the loop’ from genetic diagnoses through to clinical treatment of leukodystrophies. The study has been enabled by a $3 million grant from the Australian Government’s Medical Research Future Fund and builds on Australian Genomics’ previous Leukodystrophy research.

 

 

 

 

The project has been named in honour of Stephen and Sally Damiani’s son, Massimo Damiani, who had an extremely rare form of leukodystrophy.

To solve more leukodystrophies, the study team is:

  • Using genomics to provide more definitive diagnoses for children and adults with leukodystrophies
  • Establishing a national registry to help researchers better understand the natural history of leukodystrophies and collaborate in gene discovery and development of treatments
  • Piloting the development of cell and animal models of leukodystrophy and using these models to perform pre-clinical testing of candidate targeted therapies.

Massimo’s Mission has emerged from strong national and international collaboration between clinicians, researchers, industry and patient advocates including the Mission Massimo Foundation and Leukodystrophy Australia.

Lead investigators

Professor Rick Leventer

Murdoch Children’s Research Institute

Dr Cas Simons

Murdoch Children’s Research Institute

Professor Ernst Wolvetang

University of Queensland

Headshot of Matthias Klugmann

Professor Matthias Klugmann

University of NSW

Contact

Eloise Uebergang eloise.uebergang@mcri.edu.au


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info@australiangenomics.org.au
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Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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