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Degenerative retinal diseases affect millions of people worldwide, causing loss of vision in adults and children alike. The many diseases within this group are caused by any of thousands of known genetic mistakes in approximately 200 genes. These genetic mistakes and therefore the diseases they cause, are inherited. An individual may inherit such a genetic mistake from a parent, and pass it down to their own children, completely unaware of this silent problem until a family member, be it adult or child, is diagnosed with a sight stealing disease. The roller coaster begins. Based on current statistics, the most likely diagnosis would be 1) Retinitis Pigmentosa (RP), the leading cause of youth blindness in Australia, 2) Macular Dystrophy (MD), which affects central vision critical in daily life, or 3) the age related form of MD, Macular Degeneration (AMD) which requires both a genetic predisposition and an environmental cue before disease onset later in adult life.
The charity was formed in 1978 as the “WA Retinitis Pigmentosa Foundation Inc” by Dr Arnold Cook and has been committed since then to raise funds for research into Retinitis Pigmentosa (RP) and other inherited retinal diseases. Over the ensuing years in excess of $2.5 million has been raised for research. The charity has over 700 supporting members in WA, with one in every eighty families being affected by this disease.
The charity has an ongoing project, the WA Inherited Retinal Disease Register (IRDR) and DNA Bank. It was commenced in 1984 at Sir Charles Gairdner Hospital and its focus is to find these elusive, disease causing genetic mistakes in Western Australian families. Over the past 25 years over $500,000 has been raised for this project. A commitment was made in 2008 by the charity for additional funding of $390,000 over the next 3 years.
In recent clinical trials, human gene therapy has restored sight for patients with a severe form of RP (LCA), being particularly successful in children. Though each gene therapy must be specifically tailored to the disease and gene in question, it is highly likely that human gene therapies will provide successful treatment for other degenerative retinal diseases in the foreseeable future. The continued development of the IRD Register and DNA Bank is a vital need in order to prepare Western Australians affected by these diseases for gene-specific treatments and other medical breakthroughs as they continue to emerge.
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