Research for Rare - Research for rare diseases

SKELNET - Network for Skeletal Dysplasia

Skelnet is an expert-network funded by the Federal Ministry of Education and Research. Skelnet is designed to investigate skeletal dysplasia, which are different forms of dwarfism (microsomia). Biologists as well as physicians are able to share and exchange information between each other, to request expertise or to use a large data set. Skelnet experts are able to discuss single cases and groups of diseases.

Additionally, Skelnet represents an example for applied telematics in medicine. The transfer and collection of data for rare diseases are of special importance and their central collection of data considerably helps to gain scientific insight. Furthermore, Skelnet enables the opitimization of the medical care of patients with certain forms of dwarfism. Newest available technology was used to ensure special data privacy (protection) law requirements. This could be done by the close collaboration with centers which are adept to this technology and the abidance of the required standards.

The network Skelnet is funded as “network for rare diseases” by the Federal Ministry of Education and Research. Skelnet is member of the association “Telematikplattform für medizinische Forschungsnetzwerke e.V.” (TMF e.V.). The goals of the research acitivities of Skelnet not only concentrate on the exchange of ressources and technologies and the establishment of cooperations. The networks also plans to make a contribution to the enlightenment of basic defects and pathophysologies of sceletal dysplasia. To do this, Skelnet uses not only the whole spectrum of different research strategies (Molecular Genetics, Cell Biology, Extracellular Matrix Analysis, in vitro and in vivo studies on cell and tissue systems, mouse-models) but also the accurate observation and analysis of the clinic of skeletal dysplasia.


Assoziierte Projekte

Prof. Dr. Bernhard Zabel
Sektion Pädiatrische Genetik
Zentrum für Kinderheilkunde und Jugendmedizin
Universitäts-Klinikum Freiburg
Mathilden-Str. 1
79106 Freiburg (Breisgau)
Phone: 0761 270-4391
Fax: 0761 270-4471