Berliner Centrum für Seltene Erkrankungen an der Charité

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• 作者：Prof. Dr. Annette Grüters-Kieslich
• 关键词：Center for rare diseases ; Precision medicine ; Genome analysis ; Holistic treatment ; Whole genome sequencing
• 刊名：P?diatrie & P?dologie
• 出版年：2015
• 出版时间：September 2015
• 年：2015
• 卷：50
• 期：2-supp
• 页码：52-58
• 全文大小：303 KB
• 参考文献：1.Frank M, Koch D, Aumann I, Reimann A, Wagner TO, Graf von der Schulenburg JM (2014) Measures to improve the health situation of patients with rare diseases in Germany. A comparison with the National Action Plan. Bundesgesundheitsblatt Gesundheitsforsch Gesundheitsschutz 57:1216–1223CrossRef
  2.Neuhauser H, KiGGS Study Group, Poethko-Müller C (2014) Chronic and vaccine-preventable diseases in children and adolescents in Germany: results of the KiGGS study: first follow up (KiGGS wave 1). Bundesgesundheitsblatt 57:779–788CrossRef
  3.Kole A, Faurisson F (2010) Rare diseases social epidemiology: analysis of inequalities. Adv Exp Med Biol 686:223–250CrossRef PubMed
  4.Tifft CJ, Adams DR (2014) The National Institute of Health undiagnosed diseases program. Curr Op Pediatr 26:626–633CrossRef
  
• 作者单位：Prof. Dr. Annette Grüters-Kieslich (1)
  
  1. Klinik für Pädiatrie mit Schwerpunkt Endokrinologie und Diabetologie, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz1, 13353, Berlin, Deutschland
  
• 刊物主题：Pediatrics;
• 出版者：Springer Vienna
• ISSN：1613-7558

文摘

With progress in molecular genetic diagnosis and the improved possibilities of a demonstration of the resulting impairments, e.g., in the model organism it is possible in principle, to bring about an explanation for many diseases whose causes we do not know today, and finally develop treatments based on them. In the meantime, more than 6000 different rare diseases have come to light. There will be more because by testing the whole genome it will be possible to more precisely define diseases that have so far only been described in collective terms. This is the basis for individualized medcine, better designated precision medicine, which will enable the diagnosis and treatment of a multitude of rare congenital diseases. Therefore, newly integrated health care and research centers are needed that enable a rapid application of new knowledge in the clinic and have a broad, long-term specialist expertise in rare diseases. In the German National Action Plan for People with Rare Diseases (NAMSE) a structuring was developed, with the broad consensus of all participants. In this article the Berlin Center for Rare Diseases (BCSE) is given as an example, and has already considered some of the criteria prescribed in the NAMSE.