10.6084/m9.figshare.8259893.v1
Taiane Alves Vieira
Taiane Alves
Vieira
Franciele Barbosa Trapp
Franciele Barbosa
Trapp
Carolina Fischinger Moura de Souza
Carolina Fischinger Moura
de Souza
Lavínia Schuler Faccini
Lavínia Schuler
Faccini
Laura Bannach Jardim
Laura
Bannach Jardim
Ida Vanessa Doederlein Schwartz
Ida Vanessa Doederlein
Schwartz
Mariluce Riegel
Mariluce
Riegel
Carmen Regla Vargas
Carmen
Regla Vargas
Maira Graeff Burin
Maira Graeff
Burin
Sandra Leistner-Segal
Sandra
Leistner-Segal
Patrícia Ashton-Prolla
Patrícia
Ashton-Prolla
Roberto Giugliani
Roberto
Giugliani
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
SciELO journals
2019
Information services
Medical Genetics
diagnostic networks
rare diseases
reference centers
2019-06-12 03:09:33
Dataset
https://scielo.figshare.com/articles/dataset/Information_and_Diagnosis_Networks_tools_to_improve_diagnosis_and_treatment_for_patients_with_rare_genetic_diseases/8259893
<div><p>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.</p></div>