Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Detalhes bibliográficos
Autor(a) principal: Felix, Temis Maria
Data de Publicação: 2022
Outros Autores: 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
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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spelling 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
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 84, 13 p.
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