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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">ymj</journal-id><journal-title-group><journal-title xml:lang="ru">Якутский медицинский журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Yakut Medical Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1813-1905</issn><issn pub-type="epub">2312-1017</issn><publisher><publisher-name>ЯНЦ КМП</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25789/YMJ.2022.80.28</article-id><article-id custom-type="elpub" pub-id-type="custom">ymj-326</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ТОЧКА ЗРЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>POINT OF VIEW</subject></subj-group></article-categories><title-group><article-title>Вопросы трансляционной медицины в области молекулярно-генетических исследований в Якутии</article-title><trans-title-group xml:lang="en"><trans-title>Issues of translational medicine in the field of molecular genetic research in Yakutia</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кононова</surname><given-names>С. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Kononova</surname><given-names>S. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кононова Сардана Кононовна – к.б.н., гл.н.с.-руковод. отдела </p></bio><bio xml:lang="en"><p> Kononova Sardana K. – PhD in Biology, chief researcher, head of the Department of Molecular Genetics </p></bio><email xlink:type="simple">konsard@rambler.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Якутский научный центр комплексных медицинских проблем<country>Россия</country></aff><aff xml:lang="en">Yakut Scientific Center for Complex Medical Problems<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>07</day><month>02</month><year>2025</year></pub-date><volume>0</volume><issue>4</issue><fpage>108</fpage><lpage>112</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Кононова С.К., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Кононова С.К.</copyright-holder><copyright-holder xml:lang="en">Kononova S.K.</copyright-holder><license license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://ymj.elpub.ru/jour/article/view/326">https://ymj.elpub.ru/jour/article/view/326</self-uri><abstract><p>Обсуждаются вопросы трансляционной медицины в области внедрения результатов молекулярно-генетических исследований в практическую медицину Якутии. Отмечается процесс поэтапного внедрения ее основных направлений: «Открытие», «Популяционные исследования», «ДНК-диагностика», «Биоэтические исследования», «Государственные программы профилактики наследственных болезней». Использование новых технологий подняло здравоохранение Республики Саха (Якутия) на качественно новый уровень, но в то же время принесло множество трудноразрешимых проблем этического, правового и информационного характера. Необходимо поднимать вопрос о важности принятия государственных программ по профилактике и лечению наследственных заболеваний в Республике Саха (Якутия).</p></abstract><trans-abstract xml:lang="en"><p>The issues of translational medicine in the field of implementation of the results of molecular genetic studies in the practical medicine of Yakutia are discussed. The process of phased introduction of its main directions is noted: "Discovery", "Population research", "DNA diagnostics", "Bioethical research", "State programs for the prevention of hereditary diseases". The use of new technologies has raised the health care of the Republic of Sakha (Yakutia) to a qualitatively new level, but at the same time brought a lot of intractable ethical, legal and informational problems. It is necessary to raise the issue of the importance of adopting state programs for the prevention and treatment of hereditary diseases in the Republic of Sakha (Yakutia).</p></trans-abstract><kwd-group xml:lang="ru"><kwd>трансляционная медицина</kwd><kwd>молекулярная генетика</kwd><kwd>ДНК-диагностика</kwd><kwd>биоэтика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>translational medicine</kwd><kwd>molecular genetics</kwd><kwd>DNA diagnostics</kwd><kwd>bioethics</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Анализ мутаций гена ФАГ у больных фенилкетонурией в Краснодарском крае/ Матулевич С. А., Зинченко Л. В., Голихина Т. А. [и др.]// Медицинская генетика. 2004. – Т. 3, №10. 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