Publication of an Educational Guide "Methodology of genetic and epidemiological study of inherited diseases and congenital malformations"

The team of authors of the FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics published an Educational Guide "Methodology of Genetic and Epidemiological Study of Hereditary Diseases and Congenital Malformations" edited by R.A. Zinchenko, S.S. Amelina, S.I. Kutsev and E.K. Ginter.

The guide describes the methodology of studying the prevalence of hereditary human diseases in populations, used in population and medical genetics.

The schemes of complex research of genetic structure of populations using historical, ethnographic, molecular-genetic, cytogenetic, biochemical, genealogical, clinical, paraclinic, population and genetic, statistical approaches are described on the example of Rostov region. They allow us to assess the relationship between main factors of population dynamics and medical-genetic characteristics of a population, to study general trends and patterns in formation of hereditary pathology diversity, peculiarities of evolution of hereditary diseases in different populations and ethnic groups of the European part of Russia.

The methodology is a scientific research tool that allows us to approach the problems of adaptation of modern human populations that have passed a long way of evolution.

Specialists in population and medical genetics, biologists, doctors of various profiles, and health care organizers shall use the educational guide.