{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:18:30Z","timestamp":1788542310477,"version":"build-2803163510"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:00:00Z","timestamp":1637712000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pharmacol."],"abstract":"<jats:p>Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organization of medical care for people with rare diseases in Russia, while also exploring the epidemiology of both life-threatening and chronic, progressive, rare diseases. Further, the regulation of medical care provision is examined, including the preferential provision of medicines in different Russian regions and potential role of compulsory medical insurance. The principles guiding patient referrals to appropriate specialist centres for rare diseases are outlined, including considering the increased role that public-patient organizations have in developing healthcare systems. In reviewing the specialized resources available for patients with rare diseases, medical genetics services offering diagnostics and counselling are discussed. Additionally, population-level preventive care necessitates significant investment, principally in diagnostic technology and screening programs. As seen elsewhere, these initiatives involve forming reference centres and tertiary-level pediatric departments staffed by multidisciplinary specialists in rare diseases. Numerous challenges are highlighted relating to Russian healthcare systems, including the financing of expensive treatments and ensuring equitable access to medical care for those patients with rare diseases outside of State-subsidized programs. Recommendations are made on creating international registries for knowledge sharing, quality appraisal, newborn screening, diagnostic challenges, available treatments and rehabilitation services. Given the high cost of rare diseases, cost-effective interventions are advisable, particularly developing preventive programs and targeting the most common and severe mutations in patients planning pregnancies.<\/jats:p>","DOI":"10.3389\/fphar.2021.754073","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T22:50:46Z","timestamp":1638312646000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation"],"prefix":"10.3389","volume":"12","author":[{"given":"Svetlana Ya.","family":"Volgina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey A.","family":"Sokolov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,11,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"443","DOI":"10.22363\/2313-0245-2018-22-4-443-449","article-title":"The Role of Public Organizations in the Organization of Medical Care: According to a Survey of Parents of Children Suffering from Orphan Diseases","volume":"22","author":"Abramov","year":"2018","journal-title":"Vestn. Ross. Univ. Dru\u017eby nar., Ser. Med."},{"key":"B2","first-page":"147","volume-title":"Results of Medical and Economic Research for the Period 2013-2015*","year":"2015"},{"key":"B3","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1016\/j.healthpol.2014.12.016","article-title":"Socio-economic burden of Rare Diseases: A Systematic Review of Cost of Illness Evidence","volume":"119","author":"Angelis","year":"2015","journal-title":"Health Policy"},{"key":"B4","first-page":"196","volume-title":"Annual Bulletin of the Expert Council for Rare (Orphan) Diseases\/","year":"2019"},{"key":"B5","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/s40290-020-00332-1","article-title":"Establishing Patient Registries for Rare Diseases: Rationale and Challenges","volume":"34","author":"Boulanger","year":"2020","journal-title":"Pharmaceut Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1186\/s13023-018-0892-5","article-title":"Healthcare burden of Rare Diseases in Hong Kong - Adopting ORPHAcodes in ICD-10 Based Healthcare Administrative Datasets","volume":"13","author":"Chiu","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"B7","unstructured":"Communication from the Commission to the European Parliament, the Council, the European Economics and Social Committee and the Committee of the Regions on Rare Diseases: Europe's Challenges2008"},{"key":"B8","unstructured":"Council Recommendation on Action in the Field of Rare Diseases \u2014 2947th Employment, Social Policy, Health and Consumer Affairs\u2014council Meeting2009"},{"key":"B9","doi-asserted-by":"publisher","first-page":"416","DOI":"10.3389\/fpubh.2019.00416","article-title":"A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries","volume":"7","author":"Czech","year":"2020","journal-title":"Front. Public Health"},{"key":"B10","unstructured":"\u2116 2299 on the Program of State Guarantees of Free Provision of Medical Care to Citizens for 2021 and for the Planning Period of 2022 and 20232020"},{"key":"B11","volume-title":"\u2116 254 on the Strategy for the Development of Health Care in the Russian Federation 2025","year":"2019"},{"key":"B12","unstructured":"Demographics of Russia Explained2021"},{"key":"B13","volume-title":"141\/2000 of 16 December 1999 on Orphan Medicinal Products","year":"2000"},{"key":"B14","volume-title":"323-FL from November 21, 2011. On the Fundamentals of Public Health Protection in the Russian Federation","year":"2021"},{"key":"B15","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-019-1109-2","article-title":"Oral Health Related Quality of Life of Children and Adolescents Affected by Rare Orofacial Diseases: a Questionnaire-Based Cohort Study","volume":"14","author":"Friedlander","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"B16","doi-asserted-by":"publisher","first-page":"e0140002","DOI":"10.1371\/journal.pone.0140002","article-title":"Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries","volume":"10","author":"Gammie","year":"2015","journal-title":"PLoS ONE"},{"key":"B17","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/d41573-019-00180-\u044310.1038\/d41573-019-00180-y","article-title":"How many Rare Diseases Are There","volume":"19","author":"Haendel","year":"2020","journal-title":"Nat. Rev. Drug Discov."},{"key":"B18","doi-asserted-by":"publisher","first-page":"e1002191","DOI":"10.1371\/journal.pmed.1002191","article-title":"What Is the Purpose of the Orphan Drug Act","volume":"14","author":"Herder","year":"2017","journal-title":"Plos Med."},{"key":"B19","doi-asserted-by":"publisher","first-page":"213","DOI":"10.5582\/irdr.2018.01085","article-title":"A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries","volume":"7","author":"Khosla","year":"2018","journal-title":"Intractable Rare Dis. Res."},{"key":"B20","doi-asserted-by":"publisher","first-page":"63","DOI":"10.26347\/1607-2502201907-08063-072","article-title":"Problems of Providing High-Tech Medical Care to Patients Suffering from Rare Diseases","author":"Komarov","year":"2019","journal-title":"Probl. standardization Healthc."},{"key":"B21","first-page":"17","volume-title":"Accessibility of Medical Care and Drug Coverage for Patients with Rare Diseases Not Included in Federal and Regional Government Reimbursement Programs","author":"Krasilnikova","year":"2019"},{"key":"B22","unstructured":"List of Rare Diseases from 5.112020"},{"key":"B23","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating Cumulative point Prevalence of Rare Diseases: Analysis of the Orphanet Database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"B24","volume-title":"\u2116 16 on the Creation of the Fund to Support Children with Severe Life-Threatening and Chronic Diseases, Including Rare (Orphan) Diseases","year":"2021"},{"key":"B25","volume-title":"Public Law 97-414","year":"1983"},{"key":"B26","unstructured":"Prevalence of Rare Diseases: Bibliographic Data2019"},{"key":"B27","unstructured":"Package Management Orphan Drugs2017"},{"key":"B28","unstructured":"Orphanet Report Series. September 2020. 55p2020"},{"key":"B29","unstructured":"No 141\/2000 of the European Parliament and of the Council of 16 December 1999 on Orphan Medicinal Products2019"},{"key":"B30","unstructured":"\u2116 403 on the Order of Keeping the Federal Register of Patients with Life-Threatening and Chronic Progressive, Rare (Orphan) Diseases, Leading to the Reduction of Life Expectancy or Disability, and its Regional Segment2012"},{"key":"B31","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1016\/j.jval.2015.05.008","article-title":"Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group","volume":"18","author":"Richter","year":"2015","journal-title":"Value Health"},{"key":"B32","doi-asserted-by":"publisher","first-page":"2329","DOI":"10.1016\/j.bbadis.2015.02.008","article-title":"Rare Disease Policies to Improve Care for Patients in Europe","volume":"1852","author":"Rodwell","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"B33","doi-asserted-by":"publisher","first-page":"51","DOI":"10.26347\/1607-2502201907-08051-062","article-title":"Analysis of Specialized Medical Care for Patients with Rare Diseases","author":"Sokolov","year":"2019","journal-title":"Probl. standardization Health Care"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1297886","DOI":"10.1080\/20016689.2017.1297886","article-title":"A Comparative Study of Orphan Drug Prices in Europe","volume":"5","author":"Young","year":"2017","journal-title":"J. Mark Access Health Pol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1186\/s13023-019-1078-5","article-title":"Comparing Access to Orphan Medicinal Products in Europe","volume":"14","author":"Zamora","year":"2019","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Frontiers in Pharmacology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphar.2021.754073\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T22:51:01Z","timestamp":1638312661000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphar.2021.754073\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,24]]},"references-count":35,"alternative-id":["10.3389\/fphar.2021.754073"],"URL":"https:\/\/doi.org\/10.3389\/fphar.2021.754073","relation":{},"ISSN":["1663-9812"],"issn-type":[{"value":"1663-9812","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,24]]},"article-number":"754073"}}