Core Implementation Group

A Core Implementation Group (CIG) was created to help shape, test and implement the tools proposed by the RD-Connect platform.

A Core Implementation Group (CIG) was created to help shape, test and implement the tools proposed by the RD-Connect platform. The CIG consists of a selected subset of reference databases and registries that have proven their excellence in the field of rare diseases and have in place policies for data quality, data access and exchange. These include:
• Patients’ registries associated with NeurOmics and EURenOmics
• “Reference” registries developed by full and associated RD-Connect partners that have been chosen to represent excellence in the field of Human rare diseases
• The Eurobiobank, the BBMRI (Biobanking and Biomolecular Resources Research Infrastructure) and the Telethon Network of Genetic Biobanks

Registries and biobanks must be willing to share and exchange data and shall work closely together to show the usefulness of the RD-Connect approach. RD-Connect will assist and support the CIG members through training sessions or documents to be the early adopters of the RD-Connect standards and platform

A full list of CIG members can be found below or downloaded here

Biobanks
Registries

RDCRN Registry for Nephrotic Syndrome or Glomerular Disease

Matthias Kretzler
ICD-10 Category: N04
Coverage: USA

Italian Cystic Fibrosis Registry

Domenica Taruscio and Maria Antonietta Stazi
ICD-10 Category: E84
Coverage: Italy

LeukoFrance Database and Biobank

Odile Boespflug-Tanguy
ICD-10 Category: E75
Coverage: France

Paroxysmal Nocturnal Hemoglobinuria Registry

Domenica Tarusico & Paola Torreri
ICD-10 Category: D59.5
Coverage: Italy

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