Hereditary diseases

The brief publication of the national leadership “Hereditary diseases” differs from the full publication not only by volume, but also by the structure. It practically does not contain basic concepts of medical genetics, such as human genome, chromosomes and human genes, etc., but in it an applied orientation is strengthened.

The book describes the main types of hereditary diseases, starting with monogenic and ending with multifactorial and teratogenically determined, the basic principles of laboratory diagnostics of hereditary metabolism and other classes of hereditary diseases, as well as prenatal and prenatal and preimplantation genetic diagnostics. The issues of treatment of hereditary diseases, genetic therapy, medical and genetic counseling, neonatal screening, social significance of the cargo of hereditary diseases and ethical problems of medical genetics are highlighted.

The publication is intended for doctors of all specialties, it is also useful for the average medical personnel, especially paramedics working at paramedic and feldsher-obstetric centers.