title: Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis.
abstract: To gain further knowledge about rare genetic diseases, a world wide method for data collection via the Internet has been established. This new approach will improve collecting valuable data from single case reports. Ramedis saves standardised patient data which will be usable for statistics, longitudinal examinations and cooperative studies in future time. Embedded in the scene of the German Human Genome Project, Ramedis directly will enable phenotype-genotype correlations. Beside the better characterisation of clinical heterogeneity of rare metabolic diseases, there may be a great benefit for the treatment of these patients in whom prospective studies are otherwise expensive and difficult to perform. This contribution presents the motivation for this system, introduces features, current state and the future of the project. Additionally, first experiences of using Ramedis by health professionals are explained.
authors.affiliation: Otto-von-Guericke University Magdeburg, Institute for Technical and Business Information Systems, Germany. toepel@iti.cs.uni-magdeburg.de
authors.forename: Thoralf
authors.initials: T
authors.lastname: Töpel
authors.forename: Uwe
authors.initials: U
authors.lastname: Scholz
authors.forename: Ulrike
authors.initials: U
authors.lastname: Mischke
authors.forename: Dagmar
authors.initials: D
authors.lastname: Scheible
authors.forename: Ralf
authors.initials: R
authors.lastname: Hofestädt
authors.forename: Friedrich
authors.initials: F
authors.lastname: Trefz
mesh_terms: D003628:Database Management Systems; D005838:Genotype; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics*; D010641:Phenotype; D035583:Rare Diseases / Q000235:genetics*; D014584:User-Computer Interface