Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC27210.15690/vramn.v67i8.344PROCEEDINGS OF THE RAMS SESSIONМАТЕРИАЛЫ СЕССИИ РАМНADVANCE OF GENETICS AND GENOMICS IN NEUROLOGYДОСТИЖЕНИЯ ГЕНЕТИКИ И ГЕНОМИКИ В НЕВРОЛОГИИGinterE. K.ГинтерЕ. К.
Russian Federation

доктор медицинских наук, академик РАМН, директор ФГБУ «Медико- генетический научный центр» РАМН Адрес: 115478, Москва, ул. Москворечье, д. 1 Тел.: (499) 612-86-07

ekginter@mail.ruIllarioshkinS. N.ИллариошкинС. Н.
Russian Federation

доктор медицинских наук, профессор, заместитель директора по научной работе и зав. отделом исследований мозга ФГБУ «Научный центр неврологии» РАМН Адрес: 125367, Москва, Во локоламское шоссе, д. 80 Тел.: (495) 490-20-43

sni@neurology.ruResearch Center of Medical Genetics, Russian Academy of Medical SciencesФГБУ «Медико-генетический научный центр» РАМНResearch Center of Neurology, Russian Academy of Medical SciencesФГБУ «Научный центр неврологии» РАМН11082012678Вестник Российской академии медицинских наук142007082015Copyright ©; 2012, "Paediatrician" Publishers LLCCopyright ©; 2012, Издательство "Педиатръ"2012"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/about/submissionshttps://vestnikramn.spr-journal.ru/jour/article/view/272

Studies of genomic basis of neurological disorders is very actual in view of their high population prevalence, severe course, serious patients’ disability, and progressive mental and physical de-adaptation. In the paper, problems of genetic heterogeneity of hereditary neurological disorders and character of the respective genetic burden in the regions of Russian Federation are discussed in detail, a ‘dynamic’ type of mutations (increase in copy number of microsatellite repeats) attributable to many neurodegenerative diseases is analyzed, and achievements of Russian researchers in the identification of genes for hereditary neurological disorders and in the realization of pilot protocols of gene therapy are presented. Problems related to studies of genetic predisposition to common multifactorial diseases of the nervous system are discussed.

Изучение геномных основ неврологической патологии имеет особую актуальность в связи с ее высокой распространенностью в популяции, тяжелым течением и глубокой инвалидизацией больных, прогрессирующей психической и физической дезадаптацией. В статье подробно рассматриваются вопросы генетической гетерогенности наследственных заболеваний нервной системы и характер соответствующего генетического груза в регионах Российской Федерации, анализируется свойственный многим нейродегенеративным болезням «динамический» тип мутаций (увеличение числа копий микросателлитных повторов), представлены достижения российских исследователей в идентификации генов наследственных неврологических заболеваний и в реализации первых протоколов генной терапии. Обсуждаются проблемы, связанные с исследованием генетической предрасположенности к частым многофакторных заболеваниям нервной системы.

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