Solving the unsolved rare diseases in Europe
نویسندگان
چکیده
منابع مشابه
Unsolved issues related to human mitochondrial diseases.
Human mitochondrial diseases, defined as the diseases due to a mitochondrial oxidative phosphorylation defect, represent a large group of very diverse diseases with respect to phenotype and genetic causes. They present with many unsolved issues, the comprehensive analysis of which is beyond the scope of this review. We here essentially focus on the mechanisms underlying the diversity of targete...
متن کاملThe present situation of Rare Diseases in Central/Eastern Europe? The role of patient organisations
Results 1, At the level of medical and social services: It is still “incidental” to get to the appropriate expert or centre for diagnosis or treatment. It is difficult to find even the services, because of the lack of suitable “pathways” and referral. There are long delays in obtaining the first appointment, resulting in defencelessness and regional irregularity. The overall consequence is the ...
متن کاملthe algorithm for solving the inverse numerical range problem
برد عددی ماتریس مربعی a را با w(a) نشان داده و به این صورت تعریف می کنیم w(a)={x8ax:x ?s1} ، که در آن s1 گوی واحد است. در سال 2009، راسل کاردن مساله برد عددی معکوس را به این صورت مطرح کرده است : برای نقطه z?w(a)، بردار x?s1 را به گونه ای می یابیم که z=x*ax، در این پایان نامه ، الگوریتمی برای حل مساله برد عددی معکوس ارانه می دهیم.
15 صفحه اولRare diseases research in Europe: an overview based on data from the Orphanet database
Orphanet compiles 6500 research projects. This information been analysed to identify areas in need of collaborative research projects and to target future calls for proposals. The analysis of the distribution of number of diseases by number of treatments in development showed that most RD have no more than 3 orphan designations, whereas 53 RD have over three orphan designations. Similar results...
متن کاملNational registries of rare diseases in Europe: an overview of the current situation and experiences.
The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the 'Building Consensus and Synergies for the EU Registration of RD Patients in Europe' (EPIRARE) project convened a meeting with experts of the competent hea...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2021
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-021-00924-8