Mission
To identify issues in the rare disease environment so that all stakeholders can effectively address key challenges and more effectively establish the value of new and existing diagnostics and therapeutics.
Background
Rare disease is a rapidly expanding area of research and clinical development. Advancements in genetic understanding and other scientific breakthroughs have led to improved identification of rare conditions and possible pathways for improving rare disease diagnosis and treatment, as well as stratifying relatively common diseases into many rarer ones.
As clinicians are better able to diagnose specific rare diseases, new treatments are becoming available for clinical development. However, treatments for rare diseases are typically available at much higher "per patient" cost, which (along with other factors) create challenges to payers, providers and patients.
Manuscripts & Reports
- Nestler-Parr S, Korchagina D, Toumi M, et al. Challenges in Research and Health Technology Assessment of Rare Disease Technologies: Report of the ISPOR Rare Disease Special Interest Group. Value in Health. 2018;21(5):493-500.
- Richter T, Nestler-Parr S, Babela R, et al. Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value in Health. 2015;18(6):906-914.
Leadership
Chair
Jamie O'Hara
Chair-Elect
Sheela Upadhyaya
Working Groups
Member Engagement
These activities allow for a variety of members to participate and also facilitates disseminating content.
Co-Chairs:
- Eric William Low, MSc, Eric Low Consulting, Haddington, United Kingdom
- Brian O'Mahony, Chief Executive, Irish Hemophilia Association, Dublin, Ireland
Questions or ideas? Please send an email to rarediseaseSIG@ispor.org