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dc.contributor.author
Giugliani, Roberto
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Castillo Taucher, Silvia
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Hafez, Sylvia
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Oliveira, Joao Bosco
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Rico-Restrepo, Mariana
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Rozenfeld, Paula Adriana
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Zarante, Ignacio
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Gonzaga Jauregui, Claudia
dc.date.available
2023-08-22T19:30:11Z
dc.date.issued
2022-02
dc.identifier.citation
Giugliani, Roberto; Castillo Taucher, Silvia; Hafez, Sylvia; Oliveira, Joao Bosco; Rico-Restrepo, Mariana; et al.; Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America; Frontiers Media; Frontiers in Genetics; 13; 2-2022; 1-12
dc.identifier.uri
http://hdl.handle.net/11336/208976
dc.description.abstract
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Frontiers Media
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
DIAGNOSTIC ODYSSEY
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EARLY DIAGNOSIS
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GENETICS
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GENOMICS
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LATIN AMERICA
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MOLECULAR DIAGNOSIS
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NEWBORN SCREENING
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RARE DISEASES
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Genética Humana
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-07-11T10:21:18Z
dc.identifier.eissn
1664-8021
dc.journal.volume
13
dc.journal.pagination
1-12
dc.journal.pais
Suiza
dc.description.fil
Fil: Giugliani, Roberto. Hospital de Clinicas de Porto Alegre; Brasil
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Fil: Castillo Taucher, Silvia. Hospital Clínico Universidad de Chile; Chile
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Fil: Hafez, Sylvia. The Noa Project; Panamá
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Fil: Oliveira, Joao Bosco. Hospital Israelita Albert Einstein; Brasil
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Fil: Rico-Restrepo, Mariana. Americas Health Foundation; Colombia
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Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
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Fil: Zarante, Ignacio. Pontificia Universidad Javeriana; Colombia
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Fil: Gonzaga Jauregui, Claudia. Universidad Nacional Autónoma de México; México
dc.journal.title
Frontiers in Genetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fgene.2022.1053559/full
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.3389/fgene.2022.1053559
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