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Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks wer...

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Autores principales: Vieira, Taiane Alves, Trapp, Franciele Barbosa, de Souza, Carolina Fischinger Moura, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687351/
https://www.ncbi.nlm.nih.gov/pubmed/31188934
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0214
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author Vieira, Taiane Alves
Trapp, Franciele Barbosa
de Souza, Carolina Fischinger Moura
Faccini, Lavínia Schuler
Jardim, Laura Bannach
Schwartz, Ida Vanessa Doederlein
Riegel, Mariluce
Vargas, Carmen Regla
Burin, Maira Graeff
Leistner-Segal, Sandra
Ashton-Prolla, Patrícia
Giugliani, Roberto
author_facet Vieira, Taiane Alves
Trapp, Franciele Barbosa
de Souza, Carolina Fischinger Moura
Faccini, Lavínia Schuler
Jardim, Laura Bannach
Schwartz, Ida Vanessa Doederlein
Riegel, Mariluce
Vargas, Carmen Regla
Burin, Maira Graeff
Leistner-Segal, Sandra
Ashton-Prolla, Patrícia
Giugliani, Roberto
author_sort Vieira, Taiane Alves
collection PubMed
description Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.
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spelling pubmed-66873512019-08-23 Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases Vieira, Taiane Alves Trapp, Franciele Barbosa de Souza, Carolina Fischinger Moura Faccini, Lavínia Schuler Jardim, Laura Bannach Schwartz, Ida Vanessa Doederlein Riegel, Mariluce Vargas, Carmen Regla Burin, Maira Graeff Leistner-Segal, Sandra Ashton-Prolla, Patrícia Giugliani, Roberto Genet Mol Biol Articles Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers. Sociedade Brasileira de Genética 2019-06-10 2019 /pmc/articles/PMC6687351/ /pubmed/31188934 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0214 Text en Copyright © 2019, Sociedade Brasileira de Genética. https://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Articles
Vieira, Taiane Alves
Trapp, Franciele Barbosa
de Souza, Carolina Fischinger Moura
Faccini, Lavínia Schuler
Jardim, Laura Bannach
Schwartz, Ida Vanessa Doederlein
Riegel, Mariluce
Vargas, Carmen Regla
Burin, Maira Graeff
Leistner-Segal, Sandra
Ashton-Prolla, Patrícia
Giugliani, Roberto
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title_full Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title_fullStr Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title_full_unstemmed Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title_short Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
title_sort information and diagnosis networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687351/
https://www.ncbi.nlm.nih.gov/pubmed/31188934
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0214
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