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

摘要: Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast South, including Medical Genetics Service Hospital de Clinicas Porto Alegre (MGS/HCPA). As many areas on do not have adequate medical genetics support, networks were designed to extend service MGS/HCPA reference center. This paper presents information diagnosis that their headquarters at MGS/HCPA: SIAT (National Information System Teratogenic Agents), SIEM (Information Inborn Errors Metabolism), Alo Genetica (Hello - for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Network); EIM (IEM-Inborn Metabolism Network), NPC (Niemann-Pick C DLD (LSD-Lysosomal Storage Disorders DXB (MSUD-Maple Syrup Urine Disease RedeBRIM (Brazilian Network Reference Microdeletion Syndromes Project), Neurogenetica (Neurogenetics Brasileira Câncer Hereditario Hereditary Cancer Network). These tools very useful provide access qualified and/or diagnostic specialized non-specialized health services, bypassing difficulties preclude patients centers.