Data & Research
Understanding the Experiences of Pennsylvanians Living With Rare Diseases
Data and research help us understand the challenges people living with rare diseases face and identify opportunities to improve care, access to resources, and quality of life.
The Pennsylvania Rare Disease Advisory Council (PARDAC) is here to amplify the voices of patients and families throughout the Commonwealth. Through community-based research, analysis, and collaboration with healthcare and research partners, PARDAC helps translate patient experiences into evidence that can inform policy and improve the support available to the rare disease community.
Explore our research publications, reports, and findings below.
Peer-Reviewed Research
Public Health Reports | 2025
The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study
Researchers from the University of Pennsylvania, the University of Pittsburgh, and PARDAC analyzed survey responses from patients, caregivers, and rare disease advocates across the state. The study documents barriers to diagnosis, specialized care, and financial support, and examines how delayed diagnosis increases the psychosocial and financial burden on patients.
PARDAC Reports & Needs Assessment
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unique rare diseasesPARDAC | 2024
Empathy in Motion: A Kaleidoscope Exploration of Rare Disease, Advocacy, and Awareness through Rare Disease Patient Needs Assessment Survey
PARDAC surveyed over 1,200 respondents representing 660 unique rare diseases. Our microsite explains why and how we ran the survey, walks through the findings on diagnosis, access to transportation, and quality of life, and includes patients' own voices. The full report is available as a PDF.
2019
ANNUAL REPORT
PARDAC 2019 Annual Report
Review our foundational baseline report outlining the initial establishment, mandate, and early strategic goals of the Pennsylvania Rare Disease Advisory Council.
State Agency Reports & Policy Briefs
Pennsylvania Health Care Cost Containment Council (PHC4) | 2025
Current Events: Challenges in Rare Disease Research
Developed through collaboration between PHC4 and PARDAC, this research brief explores the findings of Pennsylvania's Rare Disease Needs Assessment Survey and examines why rare diseases can be difficult to study using healthcare data. The brief covers issues such as identifying patients through diagnostic codes, problems caused by misdiagnosis and coding errors, and the challenges of working with small patient groups.
This resource provides additional context on rare disease research and the importance of reliable data in informing healthcare decisions and public policy.