The genetic basis of disease

作者：Maria D. Jackson, Leah Marks, Gerhard May, Joanna B. Wilson · 发表于：Essays in Biochemistry · 年份：2018 · DOI：10.1042/ebc20170053 · 被引用次数：313 · 研究领域：Genetics and Neurodevelopmental Disorders、BRCA gene mutations in cancer、Epigenetics and DNA Methylation

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.