title: RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
abstract: Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
authors.affiliation: Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK.
authors.forename: Rachel
authors.initials: R
authors.lastname: Thompson
authors.forename: Louise
authors.initials: L
authors.lastname: Johnston
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Lucia
authors.initials: L
authors.lastname: Monaco
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.forename: Ivo G
authors.initials: IG
authors.lastname: Gut
authors.forename: Mats G
authors.initials: MG
authors.lastname: Hansson
authors.forename: Peter-Bram A
authors.initials: PB
authors.lastname: 't Hoen
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Hugh
authors.initials: H
authors.lastname: Dawkins
authors.forename: Monica
authors.initials: M
authors.lastname: Ensini
authors.forename: Kurt
authors.initials: K
authors.lastname: Zatloukal
authors.forename: David
authors.initials: D
authors.lastname: Koubi
authors.forename: Emma
authors.initials: E
authors.lastname: Heslop
authors.forename: Justin E
authors.initials: JE
authors.lastname: Paschall
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D018070:Biological Specimen Banks; D019295:Computational Biology; D016208:Databases, Factual; D066275:Health Information Exchange; D006801:Humans; D035583:Rare Diseases; D012042:Registries