ArticleFrontiers in genetics2021
Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by anInternational journal of molecular sciences · 2026Article
- First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Frontiers in immunology · 2026Article
- Epidemiology ofGenes · 2023Article
- Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy.International journal of molecular sciences · 2023Article
- Editorial: Population and ancestry specific variation in disease susceptibility.Frontiers in genetics · 2023Article
- The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in theInternational journal of molecular sciences · 2022Article
- The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study.Frontiers in public health · 2022Article
- Editorial: Association Between Individuals' Genomic Ancestry and Variation in Disease Susceptibility.Frontiers in genetics · 2022Article
- Editorial: Bioinformatics of Genome Regulation, Volume I.Frontiers in genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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