Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/250390 |
Resumo: | The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil. |
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Felix, Temis MariaOliveira, Bibiana Mello deArtifon, MilenaCarvalho, IsabelleBernardi, Filipe AndradeSchwartz, Ida Vanessa DoederleinSaute, Jonas Alex MoralesFerraz, Victor Evangelista de FariaAcosta, Angelina XavierSorte, Ney BoaAlves, Domingos Savio do NascimentoFaccini, Lavinia SchulerGiugliani, RobertoSanseverino, Maria Teresa VieiraRARAS Network Group2022-10-27T04:49:42Z20221750-1172http://hdl.handle.net/10183/250390001151700The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.application/pdfengOrphanet journal of rare diseases. [London]. Vol. 17 (2022), 84, 13 p.Atenção à saúdeSaúde públicaDoenças rarasEpidemiologyHealthcare systemPublic healthRare diseasesEpidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)Estrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001151700.pdf.txt001151700.pdf.txtExtracted Texttext/plain53187http://www.lume.ufrgs.br/bitstream/10183/250390/2/001151700.pdf.txt0c953c2dd25aa502422e26898ab823e5MD52ORIGINAL001151700.pdfTexto completo (inglês)application/pdf1531751http://www.lume.ufrgs.br/bitstream/10183/250390/1/001151700.pdf9ddb1dc18de36c9174b4ed20ff2589beMD5110183/2503902022-10-28 04:47:55.956397oai:www.lume.ufrgs.br:10183/250390Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-10-28T07:47:55Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
title |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
spellingShingle |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) Felix, Temis Maria Atenção à saúde Saúde pública Doenças raras Epidemiology Healthcare system Public health Rare diseases |
title_short |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
title_full |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
title_fullStr |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
title_full_unstemmed |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
title_sort |
Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) |
author |
Felix, Temis Maria |
author_facet |
Felix, Temis Maria Oliveira, Bibiana Mello de Artifon, Milena Carvalho, Isabelle Bernardi, Filipe Andrade Schwartz, Ida Vanessa Doederlein Saute, Jonas Alex Morales Ferraz, Victor Evangelista de Faria Acosta, Angelina Xavier Sorte, Ney Boa Alves, Domingos Savio do Nascimento Faccini, Lavinia Schuler Giugliani, Roberto Sanseverino, Maria Teresa Vieira RARAS Network Group |
author_role |
author |
author2 |
Oliveira, Bibiana Mello de Artifon, Milena Carvalho, Isabelle Bernardi, Filipe Andrade Schwartz, Ida Vanessa Doederlein Saute, Jonas Alex Morales Ferraz, Victor Evangelista de Faria Acosta, Angelina Xavier Sorte, Ney Boa Alves, Domingos Savio do Nascimento Faccini, Lavinia Schuler Giugliani, Roberto Sanseverino, Maria Teresa Vieira RARAS Network Group |
author2_role |
author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Felix, Temis Maria Oliveira, Bibiana Mello de Artifon, Milena Carvalho, Isabelle Bernardi, Filipe Andrade Schwartz, Ida Vanessa Doederlein Saute, Jonas Alex Morales Ferraz, Victor Evangelista de Faria Acosta, Angelina Xavier Sorte, Ney Boa Alves, Domingos Savio do Nascimento Faccini, Lavinia Schuler Giugliani, Roberto Sanseverino, Maria Teresa Vieira RARAS Network Group |
dc.subject.por.fl_str_mv |
Atenção à saúde Saúde pública Doenças raras |
topic |
Atenção à saúde Saúde pública Doenças raras Epidemiology Healthcare system Public health Rare diseases |
dc.subject.eng.fl_str_mv |
Epidemiology Healthcare system Public health Rare diseases |
description |
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil. |
publishDate |
2022 |
dc.date.accessioned.fl_str_mv |
2022-10-27T04:49:42Z |
dc.date.issued.fl_str_mv |
2022 |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://hdl.handle.net/10183/250390 |
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1750-1172 |
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001151700 |
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http://hdl.handle.net/10183/250390 |
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Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 84, 13 p. |
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openAccess |
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