Синдром Ретта в России и за рубежом: научный исторический обзор

В обзоре представлены теоретические, практические и географические аспекты изучения синдрома Ретта и других редких заболеваний по данным последнегоVIII Международного конгресса, который был проведен в России, и основных публикаций по синдрому Ретта. Несмотря на то, что с момента проведения конгресса прошло некоторое время, освещенные его участниками проблемы, остаются актуальными в настоящее время и определяют направление современных исследований. Было сформировано представление о молекулярных и клеточных механизмах синдрома Ретта и ряда редких генетических/ геномных заболеваний. В статье представлен ряд отечественных разработок, полученных в области изучения синдрома Ретта и других редких заболеваний. Дана информация по редким болезням, ассоциированным с фенотипом, подобным синдрому Ретта, или с мутациями/вариациями числа копий последовательности гена MECP2. Выявленные хромосомные (геномные) нарушения/заболевания рассмотрены в контексте редких болезней. Данный подход к анализу результатов по изучению синдрома Ретта является новым в мировой исследовательской практике. Приведенная информация будет полезна специалистам в области редких генетических заболеваний, ученым и клиницистам, изучающим синдром Ретта, а также врачам (педиатрам, генетикам, неврологам, психиатрам), которые наблюдают этих больных в клинической практике.

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