Med­ical spe­cial­ty: Hu­man ge­net­ics

Human genetics is a medical specialty that deals with the genetic material of humans and the effects of genetic variation on their health. A specialist in human genetics is thus responsible for the diagnosis, education and treatment of genetic diseases.

Genetic disorders are, in general, chromosomal, monogenic, multifactorial and mitochondrial disorders.

Furthermore, the field of human genetics includes the determination of disease risk, genetic counseling of patients and their families, as well as subject-specific research. The research focuses primarily on cytogenetic, biochemical and molecular genetic methods and classifications as well as knowledge of the process of biological functions in humans.

More content and research methods of human genetics are:

  • Etiology
  • Pathogenesis of hereditary diseases
  • General human genetics
  • Cytogenetics
  • Molecular genetics
  • Dysmorphology
  • Syndromology
  • Population genetics
  • Genetic epidemiology