Preface Free

As a term, ‘rare diseases’ covers an enormous and hugely diverse range of diseases, disorders and conditions. The ‘rare’ label can be deceptive in that many of the diseases bracketed within this class can affect a substantial number of people and when taken in totality, rare diseases affect a significant proportion of the world's population. The unmet medical need within this population is vast. In a similar way, the term ‘orphan drug’ is also subject to some confusion and misconception within the drug discovery community.

When we decided to undertake the editing of this book, we had a number of aims in mind. First and foremost, we wished to produce a broadly accessible book that would set out clearly what is meant by the terms rare diseases and orphan drugs. In so doing, we wanted to highlight the critical role that disease advocacy has played and continues to play in building drug discovery efforts in this area of biomedical science, and discuss some of the unique challenges that this field presents. Secondly, we wished to present the range of innovative science taking place to create therapies directed at rare diseases through a combination of review and case studies, highlighting the breadth of drug modalities that research in the field has produced. Research and clinical development in this area has often been both path-finding and innovative, and in many cases this has been pioneered by small biotechnology companies, or in some cases small parts of much larger companies. As such, undertaking to write a book chapter from within a small group is a significant commitment, and we are most grateful to the chapter authors for contributing their time to the writing of this book. Thirdly, we wanted to give the reader a sense of which rare diseases are currently being tackled by the drug discovery community; while to be anything like comprehensive would be impossible in a single volume, we have selected case studies from different disease classes and different drug modalities as exemplars of successful drug discovery efforts. Finally, in what is an expanding and evolving area of drug discovery research, we wanted to provide some perspective on where the field may evolve to in the near future.

We found the planning and editing of this book hugely informative and enjoyable, and armed with the knowledge that this book provides, we hope the reader will also share our enthusiasm for this important area of drug discovery.

David C Pryde and Michael J Palmer