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Российский журнал персонализированной медицины

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Редкие и неизвестные заболевания – современный тренд медицины

https://doi.org/10.18705/2782-3806-2022-2-2-72-83

Аннотация

   Редкие и неизвестные заболевания многочисленны и гетерогенны по своей природе, характеризуются низкой распространенностью и относительно высокими показателями смертности и инвалидизации. В настоящее время научному сообществу известно 6000–8000 редких болезней, при этом ежегодно описывается еще 250–280 новых нозологий. Актуальными проблемами здравоохранения во всем мире являются как трудность диагностики, так и отсутствие эффективного лечения для многих таких патологий.

Об авторах

Е. С. Васичкина
Минздрав России
Россия

Елена Сергеевна Васичкина, руководитель, профессор

Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова»

НЦМУ «Центр персонализированной медицины»

НИЦ неизвестных, редких и генетически обусловленных заболеваний

Институт медицинского образования

лечебный факультет

кафедра детских болезней

197341

ул. Аккуратова, д. 2

Санкт-Петербург



А. А. Костарева
Минздрав России
Россия

Анна Александровна Костарева, д. м. н., директор, доцент

Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова»

Институт молекулярной биологии и генетики

Институт медицинского образования

кафедра внутренних болезней



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Рецензия

Для цитирования:


Васичкина Е.С., Костарева А.А. Редкие и неизвестные заболевания – современный тренд медицины. Российский журнал персонализированной медицины. 2022;2(2):72-83. https://doi.org/10.18705/2782-3806-2022-2-2-72-83

For citation:


Vasichkina E.S., Kostareva A.A. Rare and unknown diseases are a modern trend in medicine. Russian Journal for Personalized Medicine. 2022;2(2):72-83. (In Russ.) https://doi.org/10.18705/2782-3806-2022-2-2-72-83

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ISSN 2782-3814 (Online)