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Impact Of Biobanks On Research Outcomes In Rare Diseases：A Systematic Review, Monique Garcia

Theses: Doctorates and Masters

Rare diseases (RDs) are a global priority yet are still under researched. When combined, RDs are common, with individual diseases numbering approximately 5,000-8,000, equating to approximately 7% of the population in Europe. Extrapolating this figure for Australia suggests that about 1.2 million people are affected by RDs, with about 400,000 of those being children. The WA Rare Diseases Strategic Framework 2015-2018, the first strategy for rare diseases in Australia, recognises that in order to alleviate the significant burden of rare diseases, innovative translational tools that facilitate research into new diagnostic and therapeutic strategies should be given priority.

Registries facilitate clinical, …