About the Rare Disease Registry Framework

The Rare Disease Registry Framework (RDRF) is an open source tool for the creation of web-based Patient Registries, which delivers the features that you and/or your organisation currently require. The RDRF is flexible, and your Registry can be customised and enhanced to evolve as your needs change. The RDRF empowers Patient Organisations, Clinicians and Researchers to create and manage their own Patient Registries, without the need for software development.

The RDRF is unique in that data entry forms and questionnaires are based on reusable data element definitions (called Data Elements (DEs)), which can be created and/or loaded into the system at runtime. This means that registries can be created and modified without changes to the source code. The RDRF has been developed at the Centre for Comparative Genomics, Murdoch University, Western Australia in partnership with the Office of Population Health Genomics, Department of Health Western Australia.

Do you need a patient registry for your department, clinic or community?

The RDRF enables the rapid creation of Registries without the need for software development through the following key features:

  • Dynamic creation of Registries, Forms and Sections (comprised of forms, sections, and Data Elements (DEs)) at runtime
  • Reusable Components (Data Elements (DEs)) allows DEs to be used in multiple registries
  • Patients can be defined once, and belong to several registries
  • Multiple levels of access are supported (e.g. patient, clinician, genetic, and curator roles)

The RDRF can be used to create different types of registries, such as a Contact Registry or a more complex registry with the ability to restrict Forms to certain groups of users. Please see this video for a quick demonstration.

Are you ready to create your own Patient Registry?

A Demo Site is available for you to try out online. Different levels of access are available, including admin, data curator, genetic staff and clinical staff:

  • admin username and password: admin
  • data curator username and password: curator
  • genetic staff username and password: genetic
  • clinical staff username and password: clinical
Screencasts are available to talk you through the creation of a Registry:
If you prefer to read:

Third-party Libraries

  • HGVS - Python package to parse, format, and manipulate biological sequence variants according to recommendations of the Human Genome Variation Society. Project URL

Citations

Bellgard, M.I., et al., Second generation registry framework, Source Code for Biology and Medicine, 2014. 9:14.

Bellgard, M., et al., Dispelling myths about rare disease registry system development, Source Code for Biology and Medicine, 2013. 8: 21.

Bellgard, M.I., et al., A modular approach to disease registry design: successful adoption of an internet-based rare disease registry. Hum Mutat, 2012. 33(10): p. E2356-66.

Rodrigues, M., et al., The New Zealand Neuromuscular Disease Registry. J Clin Neurosci, 2012. 19(12): p. 1749-50.