Hereditary diseases. Edited by Bochkov

National Guidelines - the first series of practical guidelines in the main medical specialties in Russia, including all the basic information necessary for the doctor for continuous postgraduate education.

National leadership of “Hereditary diseases” contains relevant, modern information about human genome, general issues of medical genetics, clinical genetics. The leadership consists of two parts that set out theoretical and clinical issues of medical genetics.

The first part presents the latest data on theoretical issues of medical genetics. Information about the organization and functions of the genome, genes and chromosomes are presented in the form understandable for doctors, but without excessive simplification.

The second part presents the issues of clinical genetics, namely, methods for the diagnosis of hereditary diseases (from the clinical level to sequencing of DNA and RNA), the principles of treatment and prevention of individual nosological forms. Since numerous hereditary diseases are described in national leaderships in other specialties, they can find links to them.

In the preparation of this publication, leading scientists of various specialties took part in the preparation of the authors and reviewers: genetics, immunologists, neuropathologists, pharmacologists, oncologists and other specialists. All recommendations have passed the stage of independent review.

The leadership is intended for geneticist doctors, doctors of genetics laboratory assistants, doctors of related specialties, interns, residents, graduate students, especially in disciplines such as pediatrics, obstetrics-gynecology, nervous diseases.