Orphan Diseases and It's Treatment
a Review
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Orphan disease research has historically been highly fragmented by data type, by a research institution, and by disease. Individual efforts often have little interoperability and it can be almost impossible to connect the detailed clinical information held in one database with the genetic information held in another, or with information on whether a biomaterial sample or data from clinical research studies is available.Linking up this data at the level of an individual patient enables researchers to gain a better overview of the disease they are studying without having to collect all the infor...
Orphan disease research has historically been highly fragmented by data type, by a research institution, and by disease. Individual efforts often have little interoperability and it can be almost impossible to connect the detailed clinical information held in one database with the genetic information held in another, or with information on whether a biomaterial sample or data from clinical research studies is available.Linking up this data at the level of an individual patient enables researchers to gain a better overview of the disease they are studying without having to collect all the information again from scratch. Providing access to data by other researchers in a secure fashion with adequate data protection allows researchers in other institutions and studying other Orphan diseases to compare results and gain new insights.By developing robust mechanisms and standards for linking and exploiting existing data and new data generated in related Orphan disease research projects,RD-Connect will develop a critical mass for harmonization and provide a strong impetus for a global "trial-ready" infrastructure.
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