[Skeletal dysplasias. The network SKELNET].
The network concept of SKELNET was developed to meet the problems and requirements encountered caring for patients with skeletal dysplasias. Skeletal dysplasias are a clinically and genetically extremely diverse group of chronic genetic diseases, which primarily affect the development of the skeleton. The rarity, extensive heterogeneity and complex pathophysiology have made these conditions a challenge to diagnose and study. They represent a group of 200 to 300 specific disorders with patients located all across Germany. So far the diagnostic process in Germany relies on a few specialists who evaluate the X-rays and clinical picture of the patient. In addition, diagnostic tests are restricted to a few laboratories across Europe. Consequences are low efficiency in diagnosis, clinical management, treatment, follow-up and scientific knowledge resulting in extremely prolonged periods between upcoming symptoms and correct diagnosis, and probably a high number of unknown and insufficiently treated cases. The improvement of cooperation among the experts is one of the key points to optimize diagnostic procedures. As the cooperating clinical and scientific specialists are at various locations in Germany, one of the major efforts is to channel the different levels of clinical and research information, making patient data files accessible and transparent to experts. This approach aims at the development of new strategies for all-embracing high level patient care fulfilling all requirements concerning the protection of personal data.
Després
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Universitäts-Kinderklinik Mainz, BRD. despres@molgen.medizin.uni-mainz.de
Engel
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MW
Zabel
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D035843:Biomedical Research / Q000639:trends; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002986:Clinical Trials as Topic / Q000639:trends*; D019058:Community Networks / Q000458:organization & administration*; D003695:Delivery of Health Care / Q000458:organization & administration; D005858:Germany; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D035583:Rare Diseases / Q000175:diagnosis* / Q000628:therapy*