Briefing
Unlocking rare disease insights
With more than 7,000 rare diseases identified to date, these conditions collectively affect 8% of the global population. Yet many of these patients experience years of confusion, misdiagnosis, and ineffective treatment before finally receiving a correct diagnosis—only to find that approved therapies are often unavailable or difficult to access.
This briefing explores how Truveta enables researchers find and understand patients with rare diseases by delivering complete, longitudinal EHR data—including notes—linked with closed claims and mortality data. With five or more years of history per patient, daily updates, and access to both structured and unstructured data, researchers can estimate true prevalence, track disease progression, detect undocumented events, and design trials that reflect the lived experience of patients.
This briefing provides insight into:
- Why rare diseases are so difficult to study using traditional data sources.
- How Truveta enables early diagnosis, timely intervention, and better outcomes.
- How a leading pharmaceutical company used Truveta Data to identify a rare disease cohort, surface key events, and quantify symptom burden using SNOMED and clinical notes.
- How genetic data will power even earlier detection through the Truveta Genome Project.
