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
Leadership
Chair-Elect
Joel Iff, PhD
Chair
Sheela Upadhyaya
Past Chair
Jamie O'Hara
Working Groups
Member Engagement
These activities allow for a variety of members to participate and also facilitates disseminating content.
Co-Chairs:
Kapil Khambholja
Eric Low, MSc
Antony Martin
Questions or ideas? Please send an email to rarediseaseSIG@ispor.org