ABSTRACT
This introduction presents an overview of the key concepts discussed in the subsequent chapters of this book. The book makes the case for a more focused and global public awareness campaign on rare diseases. It looks at the challenges facing a company trying to scale up in the orphan drug space. The book looks at what factors predict whether an orphan drug will gain regulatory approval, such as whether the company has initiated early dialogue with the regulatory authority before launching the trial. It discusses the use of compound libraries, systems biology and intellectual property rights, among other issues, and provide pointers for entrepreneurs. The book also discusses the issue of European reference networks for rare diseases, which are specialised networks of expert centres. It describes the case of the Myrovlytis Trust, which was set up to help cure genetic diseases, deciding to focus on Birt-Hogg-Dubé (BHD) Syndrome for its initial research programme.
