Leukodystrophy is the term used for a group of rare, progressive brain disorders which cause the brain’s myelin sheath (the nerves protective covering) to either develop improperly or be destroyed all together. The condition results in severe physical disabilities and intellectual disabilities. Children with the disorders live somewhere between a few months to a few years.
There are around 52 different known kinds of leukodystrophies and many more remained unsolved.
But, in the honor of Massimo Damiani, a young boy who passed away just one year ago from a unique form of the condition, the Australian Government has announced a 3 million dollar donation toward genomic research for this disease. Additionally, they will be investing 500 million over 10 years in the Australian Genomics Health Futures Mission.
Massimo Damiani’s Story
Massimo Damiani was diagnosed in 2009 with a unique form of Leukodystrophy, discovered by a researcher’s use of a “trio whole genome” sequencing approach.
He was diagnosed after researchers uncovered a mutated gene not yet found in other cases of the condition. Unfortunately, Massimo died at age 9, but his parents have continued to work to find a cure for all leukodystrophies. The search now bears Massimo’s name.
Part of the research team who discovered Massimo’s variant of the condition was Richard Leventer, an Associate Professor from the Melbourne Royal Children’s Hospital.
Leventer is now leading the funded genomic study of the condition along with Ernst Wolvetang, a Professor from the University of Queensland.
The Research
The funding provided by the government will be distributed over the span of three years. Specifically, it will help serve the modern genomics study of Leukodystrophies. The ultimate goal is to find effective treatments for all forms of this unique and complicated disease. Not only this, but researchers hope to shorten the length of time which currently exists between the time a patient is diagnosed and the time they receive treatment. Currently, this time span can be decades. They hope to move it to months.
Leventer’s genomic approach will allow his team to understand the unique mechanisms of the various forms of the disease. They hope to resolve unsolved cases, test potential therapies, and get effective treatments to patients more quickly. They will use both patient’s stem cells and mouse models to test new compounds before human clinical trials begin.
The aim is to – “understand disease mechanisms faster and test potential therapies in potentially life-changing timeframes.”
With the funding and use of genomics, the team believes that by 2020, they can reduce the amount of undiagnosed Leukodystrophies to less than 10%. They’re hopeful to not only find new treatment options for these conditions, but maybe even cures.
You can read more about this genomic project and its recent funding from the Australian Government here.
What are your thoughts on this new project and the Australian Government’s commitment to rare disease research? Share your stories, thoughts, and hopes with the Patient Worthy community!
