The genetic basis of disease.

Abstract

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.

• Authors: Maria Jackson, Leah Marks, Gerhard H W May, Joanna B Wilson
• Journal: Essays in biochemistry (Essays Biochem) Vol. 62 Issue 5 Pg. 643-723 (12 03 2018) ISSN: 1744-1358 [Electronic] England
• PMID: 30509934 (Publication Type: Journal Article, Review)
• Copyright: © 2018 The Author(s).

Chemical References

• DNA

Topics

• Animals
• Chromosome Aberrations
• DNA (genetics)
• Disease Models, Animal
• Epigenesis, Genetic
• Genetic Diseases, Inborn (diagnosis, genetics, therapy)
• Genetic Variation
• Genome, Human
• Humans
• Mosaicism
• Mutation
• Neoplasms (genetics)
• Polymerase Chain Reaction