Advancements in Technology Help Rare Disease Research

Researchers for rare diseases all need somewhere to digitally store their research data, and manage it effectively, and run actual queries, experiments and studies to make breakthroughs. This type of software tools is typically called a “registry”.

The lack of a comprehensive registry that enables researchers to collaborate electronically and pool and share patient-level data and clinical results adds years to rare disease research, in many cases preventing important changes in care and treatments from ever reaching the market. A way to reduce costs is the creation of a single “meta-registry” within one or more research departments, institutions, or a group of collaborating institutions so that disease specific sub-registries can be quickly and easily created from the meta-registry for a variety of needs.  Registries in addition to decreasing costs, will also help further research more quickly.

This type of breakthrough registry architecture accommodates technical research requirements with minimal configuration, enabling it to be customized for any rare disease. Such an approach maintains the specificity of the registry while building on the cost and time savings of economies of scale that are not typically available to the majority of rare disease research organizations.

If you are involved in rare disease research, or would like to know more in case it’s something worth discussing with your specific disease organization, the Children’s Rare Disease Network has found the following free white paper to be a good primer on the subject:

Registry Challenges in Rare Disease Research

The RARE community is also invited to join us for an upcoming webinar on this topic, being held June 22nd with the vendor RemedyMD.   RemedyMD will highlight ways to access clinical data in rare disease research to try and accelerate breakthroughs, using this type of registry technology. During this webinar we will also be announcing details about an upcoming contest to give away one of these research systems valued at up to $50,000 beginning June 26th. To sign up go to