This book deals with diseases - many of them common - that result from single and multi-gene disorders. It describes how the genetic component is identified and how the faulty molecular mechanisms caused by the defective genes can so adversely affect health. In addition, the book contains an overview of the genome project, discusses the place of development biology in medicine and the mechanism of and opportunities created by gene therapy. Very importantly, it also contains a chapter on the complex issues surrounding public understanding of genetics - from risk assessment, the heightened anxiety caused by increased, but often partial, knowledge of genetics, to the need for education.
The impact of the human genome project will be vast. All doctors, whether treating individuals or trying to prevent diseases within populations, will have to know something about, or in due course have to become, doctors to the genome. This book, based on papers delivered at a joint conference of the Royal Colleges of Physicians and Paediatrics & Child Health, will ensure that they have the insights to enable them to do so.
In his Foreword to the book, Professor Sir David Weatherall writes:
Continuous and informed communication between practising clinicians and basic scientists is essential ... this book plays an important part in developing this dialogue.