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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed
Drenen J Magee1, Sierra Kicker1, Aeisha Thomas1
1Department of Biological and Health Sciences, Crown College, St Bonifacius, MN 55375, United States.
Objective:
We aim to demonstrate the versatility of the All of Us database as an important source of rare and undiagnosed disease (RUD) data, because of its large size and range of data types.
Materials And Methods:
We searched the public data browser, electronic health record (EHR), and several surveys to investigate the prevalence, mental health, healthcare access, and other data of select RUDs.
Results:
Several RUDs have participants in All of Us [eg, 75 of 100 rare infectious diseases (RIDs)]. We generated health-related data for undiagnosed, sickle cell disease (SCD), cystic fibrosis (CF), and infectious (2 diseases) and chronic (4 diseases) disease pools.
Conclusion:
Our results highlight the potential value of All of Us with both data breadth and depth to help identify possible solutions for shared and disease-specific biomedical and other problems such as healthcare access, thus enhancing diagnosis, treatment, prevention, and support for the RUD community.
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