Webinar Review: Knowledge is power: The urgent need to internationalize databases for rare disease patients

Our trainees review webinars in their given fields and share abstracts to help colleagues outside their discipline make an informed choice about watching them. As our program bridges diverse disciplines, these abstracts are beneficial for our own group in helping one another gain key knowledge in each other’s fields. We are happy to share these here for anyone else who may find them helpful.

Knowledge is power: The urgent need to internationalize databases for rare disease patients

Domenica Taruscio, Lucia Monaco, Eric Sid, Peter Robinson

29 SEP 2022

Watch on Science.org >>

Miles NorsworthyAnalysis by Miles Norsworthy:

Anyone who may be afflicted by a rare disease will undoubtedly be frustrated with the earliest stages of their clinical experience. The condition by definition will not be well known and thus often misdiagnosed or poorly treated. Fueling this potential poor quality of care is the absence of a comprehensive and international database for rare diseases.

This rare disease information is often collected by each institution or even patients themselves. These individual efforts will be mismatched in the data collected, quality of data collected, as well as duplicate efforts leading to confusion for those looking for other examples of a given disease. Another important data point is the collection of material from patients for biobanks which must be made available internationally for research.

The establishment of an international database will not be an easy task. One single disease may have dozens of names or very similar descriptions making searching difficult for researchers. Even once this problem is sorted out the structure of how one can search such a database must also be determined. Those accessing the database will have very different questions and needs when sorting the massive amounts of data such as searching by disease, symptoms, combinations of various symptoms, regions, and more.

Finally, when research has progressed on a rare disease to the point of a potential treatment, a large enough population is needed to determine its effectiveness. A large registry of patients within the database will allow researchers to reach a population size required for rigorous statistical analysis for any treatment of a rare disease. With the establishment of a universal and international database, researchers, medical providers, and patients will all benefit.