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

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.

Editorial: Association Between Individuals’ Genomic Ancestry and Variation in Disease Susceptibility

“…The widespread introduction of technologies of whole genome and whole-exome analysis into practical healthcare has significantly increased the number of genetically determined diseases in the structure of human morbidity. Zinchenko et al (2021) discussed the point (PP) and cumulative prevalence (PP), as well as the burden of the most common rare hereditary diseases (RHDs) (autosomal dominant, autosomal recessive, and X-linked) among 14 remote populations of the European part of Russia. Ramensky et al studied genetic predisposition to cardiovascular diseases.…”

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

“…The Laboratory of Genetic Epidemiology at the Research Centre for Medical Genetics (RCMG) studied the prevalence of hereditary diseases and has identified frequent and rare nosologically forms in various populations and ethnic groups in the Russian Federation [ 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 ]. Since 2017, comprehensive genetic and epidemiological studies of the population of the Republic of North Ossetia-Alania (RNOA) have been performed [ 11 , 13 ].…”

Note on genomic ancestry and variation in disease susceptibility

“…A plethora of information stored inside the genome reflects our uniqueness and proximity to different ancestral and modern-day populations. Given the high correspondence between our genetic make-up and the geographical origin of our forefathers, it is possible to glean into precise ancestral origin using the genetic information [1,9]. Understanding one's ancestry is not only a 'homing' tool bringing someone closer to human evolutionary past but also holds the key in determining population-specific variability in disease susceptibility, drug responsiveness, and other health and fitness related traits.…”

“…Understanding one's genomic ancestry can facilitate the development of novel therapeutics or repurposing of existing treatment strategies, particularly aiding in identifying population-specific therapies. Subsequently, our knowledge of ancestry-specific variation in complex disorders can be used towards developing personalized and ancestry-specific precision medicine approaches to ameliorate several complex disorders [9]. Results: We have considered the following themes for this special issue: • Unravel predisposition of various modern-day populations towards common disorders and conditions, including but not limited to cancers, heart diseases, and infectious diseases.…”