Rare diseases – Challenges and opportunities for social entrepreneurs

Challenges and Opportunities for Social Entrepreneurs Edited by Nicolas Sireau

There are 7,000 rare diseases affecting 6%–8% of the global population. That’s 3.5 million people in the UK alone. Yet only 200 rare diseases have approved treatments. In recent years, there has been a surge of interest from business and social entrepreneurs in the field of health – including looking at ways to treat rare disease patients better and faster.

This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence.

The book will be an essential toolkit for social and business entrepreneurs who are interested in the world of rare/orphan diseases. It has the rigour of an academic publication, along with the clarity of a lay publication. An original and timely book, Rare Diseases will help to add knowledge and awareness to a vastly under-published subject.


1 Toward a focused, multinational, rare disease awareness initiative

Peter Saltonstall and E. Michael D. Scott

2 The challenges of scaling up an orphan drug enterprise

Hans Schikan

3 Building an entrepreneurial patient movement: A global case study from the AKU Society

Oliver Timmis

4 The practicalities of clinical development of drugs for rare diseases

Anthony K Hall

5 Navigating orphan drugs through the regulatory maze: Successes, failures and lessons learned

Remco de Vrueh, Harald Heemstra and Michelle Putzeist  

6 Drug repositioning strategies for rare and orphan diseases: A cost-effective approach of new uses for existing drugs.

Maria P. del Castillo-Frias, Andrew J. Doig and Farid Khan 

7 Why patient registries are crucial for finding cures for rare diseases

Pat Furlong and Kyle Brown

8 Challenges, strategies and lessons learned for the setting up and running of a European Reference Network for rare disease

Samantha Parker and Stephen Lynn

9 Managing research advances into a rare disease: Case study of the Myrovlytis Trust

John Solly and Galina Shyndriayeva

10 The BLACKSWAN Foundation for rare diseases

Dr Olivier Menzel and Dr Silvia Panigone

11 The Rise and fall of Sanfilippo syndrome

Karen Aiach 

12 Lobbying for a national rare disease plan in the UK: Lessons for rare disease patient alliances

Stephen Nutt

13 The global drug development process: What are the implications for rare diseases and where must we go?

Sharon F. Terry with Jayson Swanson


Nicolas Sireau


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