This book has been designed to provide medical students with an understanding of the basic principles of human genetics as they relate to clinical practice. Taking into account the recent recommendations on teaching from the American and British Societies of Human Genetics, each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population genetics) with a major emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene therapy and therapeutic cloning.
The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice. Over 150 illustrations have been included to demonstrate important principles and commonly encountered genetic disorders.
Each chapter contains a brief review of a major landmark publication to provide a historical context for more contemporary developments. To help sustain the student's interest and to emphasise the potential importance of genetics in medicine, large numbers of clinically related vignettes have been included covering controversial issues, such as gene patenting and the UK Biobank, together with case histories and brief biographies of famous figures from history and the arts who have suffered from, and successfully coped with, a genetic disorder.