Many of our most significant and burdensome diseases - including cancer, diabetes, arthritis, Alzheimer's and Parkinson's diseases, schizophrenia, and many others - are known to have a significant genetic component in their aetiology. These mutant genes combine with environmental factors to produce a cascade of malfunctions in the individual, which means that treatment can be addressed at any one of a whole series of different levels. This book describes the range of disorders and the treatments which have become available for them as a result of our increasing understanding of the interactions between environmental and genetic effects. The treatments described range from classical approaches such as the supply of a missing product of enzyme activity, through enzyme or cofactor replacement, to the exciting possibility of therapy directed specifically to the underlying defect, the mutant gene itself. The work is intended for clinicians, medical students, undergraduates in human health professions, and research scientists interested in medical genetics, molecular medicine, genetics, physiology, paediatrics and biochemistry.
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