gastro-jРоссийский журнал гастроэнтерологии, гепатологии, колопроктологииRussian Journal of Gastroenterology, Hepatology, Coloproctology1382-43762658-6673«Gastro» LLC10.22416/1382-4376-2016-26-3-4-10gastro-j-54Research ArticleЛЕКЦИИ И ОБЗОРЫLECTURES AND REVIEWSПерсонализированный подход в гастроэнтерологии и гепатологии: достижения 2016 годаAdvances in personalized gastroenterology and hepatology 2016ХубертЭ. БлюмHubertE. Blumhubert.blum@uniklinik-freiburg.deКлиника Фрайбургского университетаРоссияFreiburg University HospitalRussian Federation201612082016263410Copyright © Хуберт Э.Б., 20162016Хуберт Э.Б.Hubert E.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gastro-j.ru/jour/article/view/54

Последние достижения клеточной и молекулярной биологии позволили сделать существенный рывок в понимании патогенеза многих заболеваний, их диагностики, лечения и профилактики. С помощью современных методов молекулярного, генетического, эпигенетического, микробиологического и биохимического анализа, в том числе в рамках полного исследования генома человека, мы получили возможность выявлять диагностически значимые точечные мутации или полиморфизм отдельных нуклеотидов. С помощью высокопроизводительного анализа нуклеотидных последовательностей стало возможным проведение одновременного исследования тысяч генов (ДНК) или молекул, связанных с генами (РНК, белки), что позволяет определить индивидуальный генетический профиль больного («генетическую подпись») или оценить индивидуальные особенности микробиома, включая его патогенный потенциал. Подобная информация позволяет определить индивидуальную предрасположенность к заболеваниям, более точно установить прогноз болезни и определить эффективность выбранной стратегии лечения («персонализированная медицина»). Все указанные методы уже сегодня дают возможность улучшить диагностику, лечение и профилактику многих заболеваний человека.

Molecular and cell biology have resulted in major advances in our understanding of disease pathogenesis as well as in novel strategies for the diagnosis, therapy and prevention of human diseases. Based on modern molecular, genetic, epigenetic microbiologic and biochemical analyses it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms in the context of genomewide association analyses (GWAS). On the other hand, using high throughput array and other technologies, it is possible to simultaneously analyze thousands of genes (DNA) or gene products (RNA and proteins), resulting in an individual gene or gene expression profile (‘signature’) or to characterize the individual microbiome and its pathogenetic potential. Such data increasingly allow to define the individual disease predisposition or risk and to predict disease prognosis as well as the efficacy of therapeutic strategies in the individual patient (‘personalized medicine’). All these aspects have greatly contributed to the recent advances in the diagnosis, treatment and prevention of human diseases.

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The authors declare that there are no conflicts of interest present.