zdorПроблемы здоровья и экологииHealth and Ecology Issues2220-09672708-6011Gomel State Medical University10.51523/2708-6011.2013-10-4-1zdor-1421Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESОРФАННЫЕ ЗАБОЛЕВАНИЯ: ОПРЕДЕЛЕНИЕ, ПРОБЛЕМЫ, ПЕРСПЕКТИВЫORPHAN DISEASES: DIAGNOSIS, PROBLEMS, PROSPECTSКравчукЖ. П.KravchukZh. P.noemail@neicon.ruРумянцеваО. А.RumyantsevaO. A.noemail@neicon.ruГомельский государственный медицинский университетGomel State Medical University20132812201304711Copyright © Кравчук Ж.П., Румянцева О.А., 20132013Кравчук Ж.П., Румянцева О.А.Kravchuk Z.P., Rumyantseva O.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.gsmu.by/jour/article/view/1421

Известно более 6000 орфанных (редких) болезней. Низкая частота встречаемости сопровождается рядом проблем: своевременность и точность диагностики, нехватка опыта работы с данными пациентами, недостаток полезной, точной и своевременной информации, отсутствие единой системы в исследованиях, разработка лекарственных препаратов экономически невыгодна, лечение дорогостоящее. Особенно необходимы поддержка соответствующих исследований и разработка руководств для профилактики, диагностики и лечения редких болезней.

There are more than 6000 rare diseases. The low prevalence can create a number of problems including difficulties in obtaining timely, accurate diagnoses; lack of experienced health care providers; useful, reliable and timely information may be hard to find; research activities are less common; development of new medicines may not be economically feasible; treatment is sometimes very expensive. The encouragement of the relevant research and development of guidelines for better prevention, diagnosis and treatment of rare diseases are needed.

орфанные (редкие) заболеванияорфанные препаратыrare (orphan) diseasesorphan drugReferencesБелоусов, Ю. Б. Болезни-сироты и сиротские лекарства / Ю. Б. Белоусов // Ремедиум. - 2007. - № 9. - С. 8-10.Белоусов, Ю. Б. Болезни-сироты и сиротские лекарства / Ю. Б. Белоусов // Ремедиум. - 2007. - № 9. - С. 8-10.Rare Diseases: understanding this public health priority [Electronic resource] / European Organisation for Rare Diseases, 2005. - Mode of access: http://archive. eurordis.org/article.php3? id_article=918/. - Date of access: 06.06.2013.Rare Diseases: understanding this public health priority [Electronic resource] / European Organisation for Rare Diseases, 2005. - Mode of access: http://archive. eurordis.org/article.php3? id_article=918/. - Date of access: 06.06.2013.Gupta, S. Rare diseases: Canada’s «research orphans» / S. Gupta // Open Med. - 2012. - № 6(1). - Р. 23-27.Gupta, S. Rare diseases: Canada’s «research orphans» / S. Gupta // Open Med. - 2012. - № 6(1). - Р. 23-27.Апраксина, К. Для российских орфанных пациентов открывается «дорога жизни» / К. Апраксина // Ремедиум. - 2010. - № 8. - С. 49-51.Апраксина, К. Для российских орфанных пациентов открывается «дорога жизни» / К. Апраксина // Ремедиум. - 2010. - № 8. - С. 49-51.The need for worldwide policy and action plans for rare diseases / J. Forman [et al.] // Acta Pаеdiatrica. - 2012. - № 101. - Р. 805-807.The need for worldwide policy and action plans for rare diseases / J. Forman [et al.] // Acta Pаеdiatrica. - 2012. - № 101. - Р. 805-807.Stolk, P. J. Rare essentials: Drugs for rare diseases as essential medicines / P. J. Stolk, M. J. Willemen, H. G. Leufkens // Bull. World Health Organ. - 2006. - № 84. - Р. 745-751.Stolk, P. J. Rare essentials: Drugs for rare diseases as essential medicines / P. J. Stolk, M. J. Willemen, H. G. Leufkens // Bull. World Health Organ. - 2006. - № 84. - Р. 745-751.Why rare diseases are an important medical and social issue / A. Schieppati [et al.] // Lancet. - 2008. - № 371. - Р. 2039-2041.Why rare diseases are an important medical and social issue / A. Schieppati [et al.] // Lancet. - 2008. - № 371. - Р. 2039-2041.Selection of Essential Medicines [Electronic resource] / Ed. R. Laing, A. Mantel-Teeuwisse. - Background paper for the World Medicines Situation. Geneva: WHO Collaborating Centre for Pharmacoepidemiology end Pharmaceutical Policy Analysis; 2010. - Mode of access: www.pharmaceuticalpolicy.nl/Publications / Reports. - Date of access: 13.07.2013.Selection of Essential Medicines [Electronic resource] / Ed. R. Laing, A. Mantel-Teeuwisse. - Background paper for the World Medicines Situation. Geneva: WHO Collaborating Centre for Pharmacoepidemiology end Pharmaceutical Policy Analysis; 2010. - Mode of access: www.pharmaceuticalpolicy.nl/Publications / Reports. - Date of access: 13.07.2013.Сlinical research for rare disease: opportunities, challenges, and solutions / C. Robert [et al.] // Mol Genet Metab. - 2009. - № 96 (1). - P. 20-26.Сlinical research for rare disease: opportunities, challenges, and solutions / C. Robert [et al.] // Mol Genet Metab. - 2009. - № 96 (1). - P. 20-26.Rare Diseases Act of 2002. [Electronic resource] / 107th Congress. Text of H.R. 4013, 2002. - Mode of access: http://www.govtrack. us/congress/billtext.xpd?bill=h107-4013. - Date of access 13.07.2013.Rare Diseases Act of 2002. [Electronic resource] / 107th Congress. Text of H.R. 4013, 2002. - Mode of access: http://www.govtrack. us/congress/billtext.xpd?bill=h107-4013. - Date of access 13.07.2013.Translation of rare disease research into orphan drug development: disease matters / H. E. Heemstra [et al.] // Drug Discov Today. - 2009. - № 14. - Р. 1166-1173.Translation of rare disease research into orphan drug development: disease matters / H. E. Heemstra [et al.] // Drug Discov Today. - 2009. - № 14. - Р. 1166-1173.Assessing the economic challenges posed by orphan drugs / M. F. Drummond [et al.] // Int J Technol Assess Health Care. - 2007. - № 23. - Р. 36-42.Assessing the economic challenges posed by orphan drugs / M. F. Drummond [et al.] // Int J Technol Assess Health Care. - 2007. - № 23. - Р. 36-42.Communication on Rare Diseases: Europe’s challenges and the proposal for a Council recommendation on a European action in the field of rare diseases. [Electronic resource] / Commission of the European Communities, 2008. - Mode of access: http://ec.europa.eu/ health/ph_threats/non_com/docs/impact_assessment_en.pdf. - Date of access 13.07.2013.Communication on Rare Diseases: Europe’s challenges and the proposal for a Council recommendation on a European action in the field of rare diseases. [Electronic resource] / Commission of the European Communities, 2008. - Mode of access: http://ec.europa.eu/ health/ph_threats/non_com/docs/impact_assessment_en.pdf. - Date of access 13.07.2013.Bavisetty, S. Emergence of pediatric rare diseases. Review of present policies and opportunities for improvement / S. Bavisetty, W. W. Grody, S. Yazdani // Rare Diseases. - 2013. - № 1(1). - Р. 1-5.Bavisetty, S. Emergence of pediatric rare diseases. Review of present policies and opportunities for improvement / S. Bavisetty, W. W. Grody, S. Yazdani // Rare Diseases. - 2013. - № 1(1). - Р. 1-5.Уварова, Ю. Орфанные препараты / Ю. Уварова // Ремедиум. - 2011. - № 10. - С. 29-30.Уварова, Ю. Орфанные препараты / Ю. Уварова // Ремедиум. - 2011. - № 10. - С. 29-30.The Orphan Disease Networks / M. Zhang [et al.] // The American Journal of Human Genetics. - 2011. - № 88. - P. 755-766.The Orphan Disease Networks / M. Zhang [et al.] // The American Journal of Human Genetics. - 2011. - № 88. - P. 755-766.NIH Centers of Excellence, Rare Diseases Clinical Research Network [Electronic resource] / US Department of Health and Human Services, National Institutes of Health. Biennial Report of the Director, 2010. - Mode of access: http://report.nih.gov/biennialreport/ ViewSection. - Date of access 13.07.2013.NIH Centers of Excellence, Rare Diseases Clinical Research Network [Electronic resource] / US Department of Health and Human Services, National Institutes of Health. Biennial Report of the Director, 2010. - Mode of access: http://report.nih.gov/biennialreport/ ViewSection. - Date of access 13.07.2013.Research Activities at the National Institutes of Health [Electronic resource] / Office of Rare Diseases. Annual Report on the Rare Diseases, 2006. - Mode of access: http://rarediseases.info.nih.gov/asp/. Date of access 13.07.2013.Research Activities at the National Institutes of Health [Electronic resource] / Office of Rare Diseases. Annual Report on the Rare Diseases, 2006. - Mode of access: http://rarediseases.info.nih.gov/asp/. Date of access 13.07.2013.Szajner, P. Introducing Rare Diseases / P. Szajner, T. Yusufzai // Rare Diseases. - 2013. - № 1. - 24735 р.Szajner, P. Introducing Rare Diseases / P. Szajner, T. Yusufzai // Rare Diseases. - 2013. - № 1. - 24735 р.

The authors declare that there are no conflicts of interest present.