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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of th...

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Autores principales: Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435741/
https://www.ncbi.nlm.nih.gov/pubmed/34527017
http://dx.doi.org/10.3389/fgene.2021.678957
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author Zinchenko, Rena A.
Ginter, Eugeny K.
Marakhonov, Andrey V.
Petrova, Nika V.
Kadyshev, Vitaly V.
Vasilyeva, Tatyana P.
Alexandrova, Oksana U.
Polyakov, Alexander V.
Kutsev, Sergey I.
author_facet Zinchenko, Rena A.
Ginter, Eugeny K.
Marakhonov, Andrey V.
Petrova, Nika V.
Kadyshev, Vitaly V.
Vasilyeva, Tatyana P.
Alexandrova, Oksana U.
Polyakov, Alexander V.
Kutsev, Sergey I.
author_sort Zinchenko, Rena A.
collection PubMed
description The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.
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spelling pubmed-84357412021-09-14 Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence Zinchenko, Rena A. Ginter, Eugeny K. Marakhonov, Andrey V. Petrova, Nika V. Kadyshev, Vitaly V. Vasilyeva, Tatyana P. Alexandrova, Oksana U. Polyakov, Alexander V. Kutsev, Sergey I. Front Genet Genetics The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances. Frontiers Media S.A. 2021-08-30 /pmc/articles/PMC8435741/ /pubmed/34527017 http://dx.doi.org/10.3389/fgene.2021.678957 Text en Copyright © 2021 Zinchenko, Ginter, Marakhonov, Petrova, Kadyshev, Vasilyeva, Alexandrova, Polyakov and Kutsev. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Zinchenko, Rena A.
Ginter, Eugeny K.
Marakhonov, Andrey V.
Petrova, Nika V.
Kadyshev, Vitaly V.
Vasilyeva, Tatyana P.
Alexandrova, Oksana U.
Polyakov, Alexander V.
Kutsev, Sergey I.
Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title_full Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title_fullStr Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title_full_unstemmed Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title_short Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
title_sort epidemiology of rare hereditary diseases in the european part of russia: point and cumulative prevalence
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435741/
https://www.ncbi.nlm.nih.gov/pubmed/34527017
http://dx.doi.org/10.3389/fgene.2021.678957
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