| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
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| Autores: |
Vieira,Taiane Alves
Trapp,Franciele Barbosa
Souza,Carolina Fischinger Moura de
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
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| Data: |
2019-01-01
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| Ano: |
2019
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| Palavras-chave: |
Information services
Medical Genetics
Diagnostic networks
Rare diseases
Reference centers
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| Resumo: |
Abstract 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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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2018-0214
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
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| Direitos: |
info:eu-repo/semantics/openAccess
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