- Article -
| In Silico Biology 2, 0036 (2002); ©2002, Bioinformation Systems e.V. |
Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis
Thoralf Töpel1, Uwe Scholz2, Ulrike Mischke3, Dagmar Scheible3, Ralf Hofestädt4, Friedrich Trefz3
1Otto-von-Guericke University Magdeburg, Institute for Technical and Business Information Systems, Germany
E-mail: toepel@iti.cs.uni-magdeburg.de
2Institute for Plant Genetics and Crop Plant Research Gatersleben, Plant Genome Resources Centre, Germany
3Childrenīs Hospital Reutlingen, Germany
4Bielefeld University, Faculty of Technology, Germany
Edited by E. Wingender; received December 14, 2001; accepted January 8, 2001; published April 02, 2002
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.
Key words: case study, database, genotype-phenotype correlation, information system, rare metabolic disease, remote data entry