To identify key challenges in the evaluation of rare disease technologies and develop solutions that will support healthcare decision-making and foster equitable access for patients.


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.


Identify and prioritize key challenges in the evaluation of new rare disease technologies, and explore existing barriers to equitable patient access globally

Develop strategies and patient-centered solutions that can mitigate existing market access challenges and improve access decision-making for new and existing rare disease technologies

Deliver relevant and impactful educational activities on the latest rare disease market and HEOR trends by engaging with relevant stakeholders

Manuscripts & Reports



Carina Righetti, MSc, BSc

Director Pipeline Strategy & Operations for Emerging Government Programs, J&J Innovative Medicine
Titusville, NJ, United States


Joel Iff, PharmD, PhD

Executive Director, Global Access, Value & Evidence, Sarepta Therapeutics
Cambridge, MA, United States

Past Chair

Sheela Upadhyaya

Life Sciences Consultant - Rare Diseases, Openflex Ltd
London, LON, United Kingdom

Operational Lead

Charles Brown

Global Director, Value and Access, Gilead
Oakland, CA, United States

Working Groups

Member Engagement

These activities allow for a variety of members to participate and also facilitates disseminating content.


Sushmitha Inguva, MS, BS

HEOR Manager, Amgen
Oxford, MS, United States

Kapil Khambholja

CSO, Genpro, now part of Catalyst
Waltham, MA, United States

Eric Low, MSc

Independent Healthcare Consultant, Eric Low Consulting
Haddington, ELN, United Kingdom

Antony Martin, MSc, BSc

HEOR Director, QC Medica
Liverpool, United Kingdom

James Wu, MSc, MPH

Director, Health Economics & Outcomes Research, Amgen
Santa Monica, CA, United States

Key Project

Definition and Consistent Approaches to Integrating Evidence-Based Patient Advocacy in Rare Disease Health Technology Assessment (HTA)


Suchita Chaudhari

Patient Access and Pricing Strategy - Rare Diseases, Neurology, Immunology, Intellisights Consulting Ltd
London, LON, United Kingdom

Mohit Jain, MBA, PhD, BA

Vice President, Global Head, Value, Access & Strategic Pricing, BioMarin
London, LON, United Kingdom

Sheela Upadhyaya

Life Sciences Consultant - Rare Diseases, Openflex Ltd
London, LON, United Kingdom

Questions or ideas? Please send an email to rarediseaseSIG@ispor.org

Your browser is out-of-date

ISPOR recommends that you update your browser for more security, speed and the best experience on ispor.org. Update my browser now