The genetic basis of disease

Essays Biochem. 2018 Dec 2;62(5):643-723. doi: 10.1042/EBC20170053. Print 2018 Dec 3.


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.

Keywords: cancer; genetics; genomics; molecular basis of health and disease.

Publication types

  • Review

MeSH terms

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


  • DNA