ADVANCE OF GENETICS AND GENOMICS IN NEUROLOGY

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Abstract


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.

 


E. K. Ginter

Research Center of Medical Genetics, Russian Academy of Medical Sciences

Author for correspondence.
Email: ekginter@mail.ru

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

S. N. Illarioshkin

Research Center of Neurology, Russian Academy of Medical Sciences

Email: sni@neurology.ru

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

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