4.5 Review Book Chapter

The genetic basis of disease

Journal

UNDERSTANDING BIOCHEMISTRY 4
Volume 62, Issue 5, Pages 643-723

Publisher

PORTLAND PRESS LTD
DOI: 10.1042/EBC20170053

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Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.

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