persmedРоссийский журнал персонализированной медициныRussian Journal for Personalized Medicine2782-38062782-3814ФОНД АЛМАЗОВА10.18705/2782-3806-2022-2-2-72-83persmed-47Research ArticleОБЗОРЫREVIEWERSРедкие и неизвестные заболевания – современный тренд медициныRare and unknown diseases are a modern trend in medicineВасичкинаЕ. С.VasichkinaE. S.

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

Elena S. Vasichkina, Head, Professor

Federal State Budgetary Institution "V. A. Almazov National Medical Research Center"

NCMU "Center for Personalized Medicine"

SIC of unknown, rare and genetically determined diseases

Institute of Medical Education

Faculty of Medicine

Department of Children's Diseases

197341

Akkuratova str., 2

Saint-Petersburg

Vasichkina_ES@almazovcentre.ruКостареваА. А.KostarevaA. A.

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

Anna A. Kostareva, MD, Director, Associate Professor

Federal State Budgetary Institution "V. A. Almazov National Medical Research Center"

Institute of Molecular Biology and Genetics

Institute of Medical Education

Department of Internal Diseases

Минздрав РоссииРоссияMinistry of Health of RussiaRussian Federation202202062022227283Copyright © Васичкина Е.С., Костарева А.А., 20222022Васичкина Е.С., Костарева А.А.Vasichkina E.S., Kostareva A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://persmed.elpub.ru/jour/article/view/47

   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.

   Rare and unknown diseases are numerous and heterogeneous, characterized by low prevalence and relatively high mortality and disability rates. There are currently 6000–8000 rare diseases known to the scientific community, with an additional 250–280 new diseases being described each year. Both the difficulty of diagnosis and the lack of effective treatment for many of these diseases are pressing health problems throughout the world. The growing global interest in the problem of rare and unknown diseases and the search for its solution has led to the initiation of projects on rare, unknown and little-studied diseases in many countries.

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