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.


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



Carina Righetti, MSc, BSc

Director Global Market Access & Policy, Janssen Pharmaceutical Companies of J&J
Raritan, 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, Pricing, Contracting and Analytics, Gilead
Verona, NJ, 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 Research Inc
Waltham, MA, United States

Eric Low, MSc

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

Antony Martin

Director, QC Medica
York, NYK, 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, Immunology, Intellisights Consulting Ltd
Amersham, BKM, 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

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