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>