Shestopalova Elena Andreevna

Graduated from MMA named after I.M. Sechenov. She graduated with honors from a residency in clinical genetics at the Department of Medical Genetics of the I.M. Sechenov Moscow State Medical Academy, and then from the graduate school of the Moscow State Research Center for Medical Genetics under the guidance of academician N.P. Bochkov.  He regularly improves his qualifications in the specialty "Genetics", "Laboratory genetics".

Specialization:

• Counseling families to assess the risk of developing monogenic, polygenic, chromosomal diseases.
• Medical and genetic counseling of families on pregnancy planning, prenatal diagnosis.
• Pathogenetic treatment of a patient with hereditary orphan disease on an outpatient basis.
• Methodical and advisory assistance to specialist doctors in order to identify patients at risk for congenital and (or) hereditary diseases.
• Analysis of the main medical and statistical indicators of morbidity, disability and mortality of patients.
• Organization and implementation of sanitary and educational work among the population for the prevention of congenital and hereditary diseases.
• Mastering and putting into practice new effective methods of prevention, diagnosis, treatment and rehabilitation of patients with hereditary pathology.

Achievements:

Elena Andreevna is a member of the Expert Council on Phenylketonuria, a developer of Federal Clinical Guidelines on Classical Phenylketonuria and other types of hyperphenylalaninemia, Standards of medical care for Phenylketonuria. Co-author of the National Neonatal Screening Guidelines. Member of the Scientific Society of Medical Geneticists of Russia. Associate Professor of the Department of "Healthcare Organizations, Public Health and Medical and Genetic Monitoring" of the N.P. Bochkov MGNC. Laureate of the Moscow City Prize in the field of Medicine. Decree of the Mayor of Moscow dated 11.10.2017 No. 76-UM.

Research interests:

• Organization of neonatal and selective screening programs.
• Organization of medical and genetic care for patients with hereditary pathology, diagnosis and treatment of hereditary metabolic diseases.

The author of more than 60 published scientific papers, is a co-author of Federal Clinical guidelines, guidelines for doctors.