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RARE RESEARCH

RDSA research focuses on key, patient centric issues relevant to the local and global rare disease and congenital disorder communities. Targeted projects provide an evidenced-based foundation for our advocacy work, connect researchers and patients, and highlight the lay expertise of those living with rare diseases and congenital disorders.

Spearheaded by Dr Helen Malherbe, RDSA underpins the RDSA advocacy efforts.

  1. Epidemiology of rare diseases and congenital disorders. This project aims to collate relevant epidemiological data for rare diseases and congenital disorders sourced from published research, credible surveillance systems and other evidenced based approaches such as modelling. 

  2. Definitions and Terminology: This project aims towards achieving global consensus on terminology and definitions in the field of rare diseases in association with global partners

  3. Rare Diseases Research Database: A repository for translational researchers working on rare diseases or congenital disorders to promote collaboration and networking, identify areas of new research for development and to prevent duplication of effort and optimise use of resources countrywide.

  4. Research Forum: A forum for patients and caregivers to connect and share their lay expertise with clinical researchers and contribute to translational research agendas.