Doctors to the genome - from conception to maturity: the medical applications of genetics for clinicians

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Edited by Ieuan Hughes and Mark Gardiner 

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.


  • Foreword - Sir David Weatherall
  • Historical overview of the genetic revolution
  • The genome project
  • The mouse and the human genome project - Michele Rees
  • The human genome project and genome sequencing - Ian Dunham
  • A spectrum of single gene disorders - an update
  • Cystic Fibrosis - Eric Alton
  • X-linked mental retardation - Sarah Bundey
  • Muscular dystrophies - Peter Lunt
  • Sex-determination - J Ross Hawkins
  • Craniofacial disorders - Andrew Wilkie
  • Tuberous sclerosis - Andrew J Green
  • A molecular update on autosomal dominant polycystic kidney disease - Peter C Harris
  • The 1997 Teale Lecture
  • The challenge of the meningococcus - E Richard Moxon
  • Complex multi-gene disorders 
  • Genetics of type 2 diabetes - Philippe Froguel
  • Genetics of asthma and atopy - Gavin Anderson and William Cookson
  • Approaches to genetic studies of attention deficit and hyperactivity disorder - Philip Asherson and Sarah Curran
  • Epilepsy - Frances V Elmslie
  • Predisposing genes, high-risk environments and coronary artery disease: lipoprotein lipase and fibrinogen as examples - Steve Humphries, Rachel Fisher, George Miller, Hugh Montgomery and Philippa Talmud
  • Future Prospects
  • Developmental biology - Veronica van Heyningen
  • Gene therapy - David Porteous
  • Public understanding of genetics - Tom Wilkie
  • Appendix:tools of the trade - Chris Mathew and Andrew Read

Copies available on request.

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