Date of Award


Degree Type


Degree Name

Master of Science (Human Biology)


School of Medical and Health Sciences

First Advisor

Professor Wei Wang

Second Advisor

Dr Manshu Song

Third Advisor

Dr Jenny Downs


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, epidemiological, and post-marketing surveillance research for RD, collecting information from individuals with a particular disease, and storing these data in an organised system. Registries can lead to a greater understanding of the natural history of disease, consensus-driven treatment protocols, informed policy making and, in turn, improved patient outcomes. Despite these benefits, registries are limited in their capacity to conduct basic research, attributed to the fact that most registries do not collect and store patient and donor specimens appropriately to capture or preserve important biological information (such as DNA, RNA and proteins) for basic research, a prerequisite for translating scientific discoveries into diagnostic tools and therapies for clinical practice.

Biobanks (BB) are gradually becoming more recognised as invaluable tools to drive basic and translational research for RDs. BBs collect and store biological specimens with matched clinical data and patient metadata in an organised system, distributing samples and data to the scientific community, enabling “omics” studies. This is especially important considering the field of drug innovation for RDs has, in recent years, become progressively focused on ‘omics-type research, and that more than 80% of RDs have a genetic component RDs have recently been referred to as “fundamental diseases”, highlighting their unique capacity in providing opportunities to investigate the “extremes of human pathology”. For example, research of LDL-receptors in familial hypercholesterolemia, a rare disease, led to the discovery of statins, a drug therapy that is now also routinely used to prevent heart disease.

This Masters research thesis examined the research outcomes of two specific research strategies: registries linked to BBs and registries without BBs, and found that whilst registries without BBs had the capacity to uncover the natural history of disease, develop best practice, replace clinical trials, and improve patient outcomes, they were limited in their capacity to conduct basic research. Registries, when annexed to BBs, had the key infrastructure required to make novel Omics discoveries, identify and validate biomarkers, uncover novel genes, and develop new therapeutic strategies. The results of this Masters research thesis suggest that the role of basic research in RD research is vital; scientists must first understand the pathways of disease before they can develop appropriate interventions. Linkage of BBs to RD registries will provide the enhanced resources required for the effective translation of basic research into clinical practice.