Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.
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ABSTRACT:
SUBMITTER: Zinchenko RA
PROVIDER: S-EPMC8435741 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the 'Orphanet Epidemiological file' (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3-80.7% of the population burden of rare diseases is attributable to the 4.2% (n?=?149) diseases in the most common prevalence range (1-5 per 10 000). Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5-5.9%, which equates to 263-446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.
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Project description:Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or training.Outcome Measures were developed and implemented by the HHT Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN), in order to maximise the number of patients receiving good care. The measures specifically target areas where optimal management reduces morbidity and mortality in HHT patients, and were designed to be robust to emerging new evidence. Thresholds are the percentage of patients in particular settings who have been recommended screening, or provided with written advice. The 5 Outcome Measures cover (1) pulmonary AVM screening; (2) written nosebleed advice, (3) assessment of iron deficiency; (4) antibiotic prophylaxis prior to dental and surgical procedures for patients with pulmonary AVMs, and (5) written advice on pregnancy. They are not a blueprint for detailed HHT management, but are suitable for all clinicians to be aware of and implement.In summary, these 5 Outcome Measures provide metrics to identify healthcare providers of good care, and encourage care improvement by all healthcare providers.
| S-EPMC6094583 | biostudies-literature
Project description:Background:Weeds are plants that, although not specially cultivated, grow and often adapt to growing in arable lands. They form an ecological variant of flora, as a historically-formed set of species growing on cultivated soils. For the rational use of the chemical and biological crop protection products and to produce safe and high-quality food, up-to-date data on the floristic diversity of weeds and the patterns of its geographical change are required. The need for a weeds' database arises that allows many specialists to work together independently. However, the great value of any database lies not in its existence, but in the accumulation of data that can be used to analyse the factors affecting the species diversity of weeds. New information:A dataset of weed species diversity and their distribution in the European part of Russia, based on the results of the authors' own research from 1999 to 2019, has been created.The dataset includes 24,284 observations of occurrences of weed plants, which were obtained on the basis of 2,049 relevés of segetal plant communities in seven regions of the European part of Russia. In total, the dataset includes information about 329 species of vascular plants growing in 65 farmlands: cereals, spring and winter crops, industrial crops, row crops and perennial grasses (Tretyakova et al. 2020).
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Project description:Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work. Model organism genetics can offer a straightforward experimental setup for hypothesis testing. Containing orthologs for over 80% of the genes involved in human diseases, zebrafish (Danio rerio) has emerged as one of the top disease models over the past decade. A plethora of genetic tools makes it easy to create mutations in almost any gene of the zebrafish genome and these mutant strains can be used in high-throughput preclinical screens for active molecules. As this small vertebrate species offers several other advantages as well, its popularity in biomedical research is bound to increase, with "aquarium to bedside" drug development pipelines taking a more prevalent role in the near future.
| S-EPMC6023479 | biostudies-literature
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| S-EPMC9626478 | biostudies-literature
Project description:Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs distribution in populations is generally limited to either European data or analyses of isolated populations which were performed several decades ago. Thus, an acknowledgement of the HDs prevalence in different modern open populations is important. The study presents the results of a genetic epidemiological study of hereditary diseases (HDs) in the population of the Karachay-Cherkess Republic (KChR). Clinical screening of a population of 410,367 people for the identification of HDs was conducted. The population surveyed is represented by five major ethnic groups-Karachays, Russians, Circassians, Abazins, Nogais. The study of the populations was carried out in accordance with the proprietary protocol of genetic epidemiological examination designed to identify >3500 HDs easily diagnosed during clinical examination by qualified specialists specializing in the HDs. The protocol consists of the population genetic and medical genetic sections and is intended for comprehensive population analysis based on the data on different genetic systems, including the genes of HDs, DNA polymorphisms, demographic data collected during hospital-based survey. 8950 families (with 10,125 patients) with presumably the HDs were initially identified as a result of the survey and data collection through various sources of registration (from 1156 medical workers from 163 medical institutions). A diagnosis of hereditary pathology was established in 1849 patients (from 1295 families). Two hundred and thirty nosological forms were revealed (in 1857 patients from 1295 families). The total prevalence of HDs was 1:221. Differences between populations and ethnic groups were identified: 1:350 in Russians, 1:195 in Karachays, 1:199 in Circassians, 1:218 in Abazins, 1:135 in Nogais. Frequent diseases were determined, the presence of marked genetic heterogeneity was identified during the confirmatory DNA diagnosis. To explain the reasons for the differentiation of populations by load of HD, a correlation analysis was carried out between the FST (random inbreeding) in populations and HDs load values. This analysis showed genetic drift is probably one of the leading factors determining the differentiation of KChR populations by HDs load. For the first time, the size of the load and spectrum of HDs in the populations of the KChR are determined. We have demonstrated genetic drift to be one of the main factors of the population dynamics in studied population. A significant genetic heterogeneity of HDs, both allelic and locus, was revealed in KChR.
| S-EPMC6981994 | biostudies-literature
Project description:A new rare subtype of hereditary thrombophilia named antithrombin resistance. Antithrombin resistance is caused by mutations in the prothrombin gene (F2), located in the antithrombin binding region, which lead to the impaired thrombin inhibition by antithrombin and, therefore, thrombotic disorders due to the antithrombin resistance.
| PRJEB45990 | ENA
Project description:BackgroundVIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-syndrome-like phenotype or MECP2 mutations/copy number variations have been thoroughly covered by a number of contributors. In this respect, we have found that a review dedicated to the scientific program of the VIII World Rett Syndrome Congress & Symposium of Rare Diseases could be an important addition to current literature.ConclusionTaking the opportunity to review the World Rett Syndrome Congress & Symposium of Rare Diseases at Kazan, we have made an attempt to describe a number of achievements and developments in the field of studying Rett syndrome and rare diseases in Russia. Furthermore, chromosomal abnormalities/disorders have been considered in the rare disease context. Such approach to chromosomal abnormalities/disorders has been found to be rather new for an appreciable part of international researchers and health care providers. We do hope that this congress review may be helpful not only for those who are interested in local development of research and management of rare genetic disorders, but also for international researchers and clinical community of rare disease specialists.
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Project description:BackgroundDespite the key role played by soil organisms in the functioning of terrestrial ecosystems and provisioning of ecosystem services (Barrios 2007, Bardgett and Putten 2014), available open data on soil biodiversity are incongruously scarce (Eisenhauer 2017, Cameron 2018). This is especially true for Russia, but contrasts long traditions of soil zoological research and large volumes of data that were collected during the second half of the 20th century for the territory of the former USSR. Last year, 41,928 georeferenced occurrences of soil-dwelling arthropods Collembola were digitised and published through GBIF.org. This work continues these activities. The article combines descriptions of three new sampling-event datasets about the various types of anthropogenic load on the diversity and the abundance of Collembola, small arthropods involved in the destruction of organic residues in the soil:Collembola of winter wheat fields in the Kaluga Region: conservation treatment versus conventional one (Kuznetsova et al. 2020). The following variants were studied: 1) treatment with organic fertilisers and tillage, without mineral fertilisers and pesticides, 2) the same, but without tillage, only discing; 3) with mineral fertilisers, pesticides and tillage. Special multi-scale sampling design was used. The material was collected on 24-26 July 2019 in Kaluga Region, European part of Russia. Data on 2226 records on 7302 specimens of 32 species in six fields in 486 soil cores are presented.Collembola of broadleaved forests along gradient of urbanisation in Moscow (Kuznetsova and Ageeva 2020). Sampling plots were placed in oak and lime forests located at different distances from the centre of Moscow. The material was collected in different seasons of 1990-1991. Data on 1737 records on 6873 specimens of 64 species (17 series of sampling, 720 soil cores) are presented.Collembola in clear cutting areas of Arkhangelsk Region: spatial and temporal series of the data (Kuznetsova and Klyueva 2020). Sampling plots were in birch forests of different ages with spruce underbrush and in old spruce forest. The study was carried out in July of 1970-1971 and 1984 in Arkhangelsk Region, European part of Russia. In 1970, cores were taken at sites where the forest was restored 15, 30 and 80 years after clear cuttings, as well as in a 180-year-old spruce forest. In 1984, sampling was repeated in two plots. Data on 1468 records on 18788 specimens of 47 species (seven series of sampling, 720 soil cores) are presented.New informationThese datasets contribute to filling gaps in the global biodiversity distribution of the Collembola. All datasets present new information about effects of agricultural treatments, urbanisation and clear cutting on springtail diversity and abundance in ecosystems of the European part of Russia.
| S-EPMC7648050 | biostudies-literature
Project description:Ulcerative colitis (UC) is an inflammatory disease that affects the colon and rectum. Recently, evidence has emerged about the influence of microbiota on the development of this disease. However, studies on the role of intestinal microbiota in the pathogenesis of UC have been incomplete. In addition, there are no comprehensive studies of the causes of ulcerative colitis and data on the microbiological composition of the intestines of patients with ulcerative colitis in Russia. We carried out a study of the microbiological composition of the intestines of patients with ulcerative colitis and healthy individuals. We found significant changes in the bacteria genera and species in patients with UC compared with the control group using sequencing on the IonTorrent PGM system and subsequent data analysis. In our study we observed a significant increase of the genus Haemophilus, Olsenella, Prevotella, Cedecea, Peptostreptococcus, Faecalibacterium, Lachnospira, Negativibacillus, Butyrivibrio, and the species Bacteroides coprocola, Phascolarctobacterium succinatutens, Dialister succinatiphilus, Sutterella wadsworthensis, Faecalibacterium prausnitzii in patients with ulcerative colitis. In addition, in patients with ulcerative colitis there was a significant decrease in the genus Fusicatenibacter, Butyricimonas, Lactococcus, Eisenbergiella, Coprobacter, Cutibacterium, Falsochrobactrum, Brevundimonas, Yersinia, Leuconostoc and in the species Fusicatenibacter saccharivorans. We found confirmation of our data with literary sources and studies of UC. In addition, we discovered a few taxa such as Negativibacillus spp. and Falsochrobactrum spp. that have not been previously found in human stool samples. Our data confirm that more research is needed to understand the role of microbiome changes in the development of UC in different people populations.
| S-EPMC7970149 | biostudies-literature