From Records to Research: Making Sense of Health Data for Rare Diseases

Data literacy is essential for patients, families, and patient advocates in the rare disease community because it empowers them to: 

• make informed decisions,  

• advocate effectively, and  

• contribute to research that can improve treatments and care.

Course Aims 

• Explain the role of data in healthcare: Introduce how different types of health data (clinical, patient-generated, and research) are collected, stored, and used to improve healthcare and advance medical research, with a focus on rare diseases.
• Increase understanding of electronic health records (EHRs) and interoperability: Provide a clear overview of how EHRs work, why standardized coding systems matter, and the benefits and challenges of sharing health information across different systems. 
• Introduce patient-generated health data: Show how medical devices and digital tools such as wearables collect and share information that supports diagnosis, treatment, and ongoing monitoring.
• Demystify research participation and data use: Explain how research studies are conducted, the types of data they use, and important considerations for patients and caregivers before joining a study or clinical trial. 
• Highlight the importance of data quality, accuracy, and privacy: Emphasize why reliable and standardized data is essential, outline privacy protections such as HIPAA, and discuss responsible data use. 
• Connect data to improved care and innovation: Illustrate how high-quality, well-used health data leads to improved diagnosis, treatment, and research breakthroughs for rare diseases.