eBook

Invisible patients, fragmented data: How gaps in information obscure rare disease

Read time: 7 min
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Summary

Half of all rare disease patients in the U.S. are children. Yet, too many remain unseen, lost in the space between research and care. The data isn’t lacking or poor-quality – rather, it’s fragmented, unstructured, and mislabeled.

This eBook demonstrates how structured data, specialized clinical terminology, and intelligent normalization can bring these young patients into focus. By strengthening the connection between EHR documentation and research needs, life sciences organizations can shorten diagnostic timelines, improve cohort precision, and accelerate rare disease trial recruitment.

Key Learnings:

  • How unstructured pediatric EHR data delays diagnosis and limits RWD use
  • The impact of normalization and terminology mapping on rare disease insights
  • How precise data optimizes clinical trial design, RWE generation, and ROI

Who It's For

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