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Пишет Вам Ольга Зашмарина, мама ребенка с орфанным заболеванием, синдромом Ангельмана, представитель родительского коммьюнити и волонтер фонда \"Синдром Ангела\".\nОбратиться к Вам, как представителю научного мира, побудило общее стремление родителей инициировать системное исследование синдрома и проведение в перспективе клинических испытаний генного препарата на территоррии РФ.\nНа сегодняшний день мы пополняем реестр пациентов и стараемся популяризировать синдром среди ученых и врачей.\nСиндром мало изучен, лечение - симптоматическое и маршрутизация самих пациентов, как правило, оставляет желать лучшего. Для родителей - это испытание каждого дня. Мы хотели бы наладить контакты с потенциально заинтересованными людьми из области научной медицины. Для этого требуется взаимодействие и содействие подведомственных организаций на территории РФ, направляющих пациентов в институт Вельтищева г. Москвы для формирования единого реестра пациентов, также привлечение молекулярных биологов, нейробиологов и других узкопрофильных специалистов из мира науки для более глубокого, комплексного изучения синдрома на территории России. \nОсобую важность предоставляет распространение информации среди профильных специалистов: неврологов, эпилептологов и генетиков, обозначение рабочей схемы перенаправления верифицированных пациентов в инст.Вельтищева. \nКроме того, на сегодняшний день актуализирована тема проведения пролонгированного полисомногра\nфического исследования синдрома Ангельмана разных возрастных групп и механизмов повреждений 15й хромосомы, в контексте присущей клинической картине, депривации сна.\nАктуальным предоставляется определение генеза ночных пробуждений в контексте депривации сна, дифференциация эпилептических ночных событий и событий, носящих доброкачественный характер, выявление причин спонтанных пробуждений, чуткого сна, вопросов касательно качества и кол-ва часов сна и бодрствования.\nРодители вынуждены признать свое бессилие перед диагнозом и взяли инициативу по налаживанию связей с научным миром в свои руки... Эпилепсия, будучи прогредиентной, чревата изменениями личности, отсутствие правильного диагностирования и выбора тактики ведения пациента приводит к печальнейшим последствиям и рушит судьбы огромного количества семей...\n\nКроме того, актуализирована тема проведения исследований касательно\n медицинской идиосинкразии, реакции на раздражители в контексте ЖКТ. 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В прошлые года по состоянию помещкний был очевиден упадок былого величия института, а в 2020 видно что постепенно институт возрождается и это радует (за державу уже не так обидно, как раньше).","fullText":"","textLanguage":"UNKNOWN","textTranslations":{}},{"id":"R20bZDkwih1JxeYrcSP9_D1AtX7PA74TR","object":{"id":"/sprav/1671417562"},"author":{"name":"СЮР","avatarId":"63032/9AZFdRlMtxmgLAY3NoTmdc9dV3M-1","url":"//reviews.yandex.ru/user/c82q4d6eykkj6m59u9p5j7ftg4?utm_source=org&main_tab=org","level":"Знаток города 11 уровня","verified":false,"linkTheme":"black","scoreQuestion":"","publicId":"c82q4d6eykkj6m59u9p5j7ftg4","reviewsCount":67},"rating":{"newDesign":true,"max":5,"val":5},"photos":[],"moderated":true,"time":"29 августа 2019","text":"Хорошие сотрудники, разумная администрация, бесплатная парковка, вкусные яблоки (во дворе), правда, к осени могут падать на крышу машины ;)","fullText":"","textLanguage":"UNKNOWN","textTranslations":{}}],"hidePhotos":true,"textLength":170,"isLoggedIn":false},"context":{"requestParams":{"appId":"serp-1org-desktop","reqid":"1748196645511523-16242974892935111359-balancer-l7leveler-kubr-yp-vla-122-BAL","oid":"219499610185","otype":"Org","objectId":"/sprav/219499610185","csrfToken":"","spravObjectId":"/sprav/219499610185"}},"reviewOwner":{"name":"Институт общей генетики им. 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