Affiliations: Otto-von-Guericke University Magdeburg, Institute for
Technical and Business Information Systems, Germany E-mail:
[email protected] | Institute for Plant Genetics and Crop Plant Research
Gatersleben, Plant Genome Resources Centre, Germany | Children´s Hospital Reutlingen, Germany | Bielefeld University, Faculty of Technology,
Germany
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.
Keywords: case study, database, genotype-phenotype correlation, information system, rare metabolic disease, remote data entry
