The history of the international rare diseases research consortium (IRDiRC) and its conferences

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
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引用次数: 0

Abstract

Individual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there is a very limited amount of researchers and resources available. Concerted efforts to organize the rare disease community and funding were emerging in several countries but so far, international coordination was rather limited. The International Rare Diseases Research Consortium (IRDiRC) aims to correct this. A part of this requires bringing rare disease researchers together for an international conference.

国际罕见疾病研究联合会(IRDiRC)及其会议的历史
几十年来,个别研究人员和研究团体一直在研究罕见病。然而,由于罕见病的异质性很大,罕见病社区可能非常分散。事实上,许多疾病的研究人员和可用资源都非常有限。一些国家正在齐心协力组织罕见病社区和筹集资金,但迄今为止,国际协调还相当有限。国际罕见病研究联合会(IRDiRC)的目标就是要纠正这种状况。其中一部分工作需要将罕见病研究人员聚集在一起,召开一次国际会议。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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