“Join us in making voice of rare diseases heard” motto of the Rare Diseases Day, 29th February 2016
نویسندگان
چکیده
منابع مشابه
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding
BACKGROUND Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their importance for healthcare planning and resource allocation, and prevents clinical research from being performed. METHODS Orphanet was given the task to develop an inventory of r...
متن کاملProgress in Rare Diseases Research 2010–2016: An IRDiRC Perspective
Rare diseases by definition are conditions that affect small numbers of people. The prevalence threshold that designates a disease as rare varies in different countries. Generally, diseases with prevalence fewer than 5 in 10,000 people are considered rare.1 Many rare diseases affect far fewer people worldwide, with some having a single identified case and others with cases numbering from tens t...
متن کاملIdentifying rare events in rare diseases.
Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer Res; 21(8); 1782-5. ©2014 AACR. See related article by Oberthuer e...
متن کاملEpigenetics in Rare Diseases
By definition, a rare disease is any condition that affects a small percentage of the population. However, the cutoff number for which a disease is considered as rare varies with different regions. In the United States, the cutoff was fewer than 200,000 people [1] and while in Japan, it was fewer than 50,000 [2]. For Europe, rare diseases are life-threatening or chronically debilitating ones in...
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ژورنال
عنوان ژورنال: Journal of Rare Cardiovascular Diseases
سال: 2016
ISSN: 2300-5505,2299-3711
DOI: 10.20418/jrcd.vol2no6.241