کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8343874 | 1541560 | 2014 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseas
ترجمه فارسی عنوان
در ایجاد، سودآوری و پایداری شبکه های تحقیقاتی در زمینه بیماری های نادر: درسهایی از کنسرسیوم اختلالات چرخه اوره، کنسرسیوم اختلالات چرخه یورو ژاپن و رجیستری اروپایی و شبکه های مربوط به انواع مسمومیت های تنفسی
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
چکیده انگلیسی
The past two decades has seen a rapid expansion in the scientific and public interest in rare diseases and their treatment. One consequence of this has been the formation of registries/longitudinal natural history studies for these disorders. Given the expense and effort needed to develop and maintain such programs, we describe our experience with three linked registries on the same disease group, urea cycle disorders. The Urea Cycle Disorders Consortium (UCDC) was formed in the U.S. in 2003 in response to a request for application from the National Institutes of Health (NIH); the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD) was formed in 2011 in response to a request for applications from the Directorate-General for Health and Consumers (DG SANCO) of the EU; and the Japanese Urea Cycle Disorders Consortium (JUCDC) was founded in 2012 as a sister organization to the UCDC and E-IMD. The functions of these groups are to collect natural history data, educate the professional and lay population, develop and test new treatments, and establish networks of excellence for the care for these disorders. The UCDC and JUCDC focus exclusively on urea cycle disorders while the E-IMD includes patients with urea cycle disorders and organic acidurias. More than 1400 patients have been enrolled in the three consortia, and numerous projects have been developed and joint meetings held including an international UCDC/E-IMD/JUCDC Urea Cycle meeting in Barcelona in 2013. This article summarizes some of the experiences from the three groups regarding formation, funding, and models for sustainability.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 113, Issues 1â2, SeptemberâOctober 2014, Pages 105-108
Journal: Molecular Genetics and Metabolism - Volume 113, Issues 1â2, SeptemberâOctober 2014, Pages 105-108
نویسندگان
Marshall L. Summar, Fumio Endo, Stefan Kölker,