Introduction

There have been enormous advances in scientific understanding of our basic biology, and the relationships between genetics, physiology and the ultimate appearance of diseases. Yet modern medicine still has little to offer that will alter the natural history of most diseases which cause chronic ill health, increasing disability and premature death. While an increasing number of diseases are becoming treatable, few are curable. In some cases, we even see the resurgence of diseases such as TB and polio which many thought were conquered through the development of antibiotics, vaccinations and other interventions.

Patients and families affected by, or at risk from, life-limiting diseases have a special relationship with the biomedical research community. Without a sustained commitment to high-quality research and development the conditions that affect them will continue to exert a toll on both the length and quality of their lives. This will have an impact not only on those affected today, but also on future generations. This is particularly the case when the diseases in question have a genetic cause or for which there is a substantial genetic predisposition. For patients and families in this position, research offers hope for the future. It means that, just because things are as they are today, this will not necessarily be the case in the future. Circumstances may change for the better – if not for them then for their children or for other families in this position.