Rare disease research

Why research rare diseases?

Rare disease’s are a global health priority. With only 5% of all rare diseases having any effective treatments, discovering new treatments is paramount. This is especially urgent considering the majority of rare disease patients are children. Conducting rare disease research is important not only for rare diseases, but also for also common diseases. For example, research of low-density lipoprotein (LDL)-receptors in the rare disease known as familial hypercholesterolemia led to the discovery of statins, a drug therapy that is now used routinely to prevent heart disease. Despite these clear benefits, rare diseases are still under researched worldwide. Research into rare diseases face significant barriers. Patients are few in number and are scattered geographically, disease classifications are often unclear, and there is a general lack of interest and funding. Undertaking rare disease research requires significant resources. There are two main types of rare disease resources:


Registries involve the collection and storage of clinical data from patients in a database. Because rare diseases are so few in number, national and international registries are often the only source of data for a specific rare disease. Our recent systematic review found that registries have the capacity to uncover the natural history of disease, develop best practice, replace clinical trials, and improve patient outcomes. An example of a rare disease registry the Pediatric Spine Study Group. In Australia, a call to action to bring together existing rare disease registries was made in an effort to improve the lives of patients and attract funding. Despite their many functions, registries have their limitations. Registries do not collect biological samples, such as blood, therefore, cannot conduct basic (laboratory-based) research. Basic research is the prerequisite to understanding the pathways of disease, making new discoveries and finding new treatments.


Biobanks involve the collection and storage of biological samples (such as blood or saliva) from patients in freezers. Biobanks are usually located within universities or research institutes. Our research found that biobanks have the key infrastructure required to conduct basic research, make novel Omics discoveries, identify and validate biomarkers, uncover novel genes, and develop new therapeutic strategies. An example of a Biobank network is the Telethon Network of Genetic Biobanks in Italy. Biobanks, however, do not usually collect comprehensive clinical data or impact on clinical observations like a rare disease registry.

Registries linked to Biobanks – making the connection.

Our latest research findings showed that registries linked to biobanks provide the appropriate resources required for the effective translation of basic research into clinical practice. Linking these two resources together offers a unique, practical, cost-effective, and impactful solution for rare disease research. This is the key to rare disease research, as it will ultimately improve patient outcomes and alleviate the significant burden associated with rare disease for clinicians, hospitals, society, and most importantly, the patients and their families.