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
Registries
Marco Crimi
ICD10 category Q93.2 – Q07.9
Coverage: International
The European Huntington’s Disease Network Registry
Michael Orth & Christian Neri
ICD-10 Category: G10
Coverage: European
Spanish Rare Diseases Registries Research Network – SpainRDR
Manuel Posada
ICD-10 Category: NA
Coverage: Spain
NIH/NCATS Global Rare Diseases Patient Registry Data Repository/GRDR® program
Yaffa Rubinstein
ICD-10 Category: NA
Coverage: USA
RDCRN Registry for Nephrotic Syndrome or Glomerular Disease
Matthias Kretzler
ICD-10 Category: N04
Coverage: USA
European Registry and Network for Intoxication Type Metabolic Diseases – E-IMD
Stefan Kölker
ICD-10 Category: E71.1, E72.2, E72.3, E72.4
Coverage: International
Australian National Spinal Muscular Atrophy Registry
Caroline Graham
ICD-10 Category: G12.0, G12.1
Coverage: Australia
Australian National Duchenne Muscular Dystrophy Registry
Caroline Graham
ICD-10 Category: G71.0
Coverage: Australia
Agata Robertson & Volker Straub
ICD-10 Category: G71.0
Coverage: International
The International Dysferlinopathy Registry
Gaëlle Blandin
ICD-10 Category: G71.0
Coverage: International
The European SCA (spinocerebellar ataxia) registry, EUROSCA-R
Thomas KLOCKGETHER
ICD-10 Category: G11
Coverage: European
Marina Noris and Erica Daina
ICD-10 Category: D59.3, M31.1
Coverage: International
European Cystic Fibrosis Society – Patient Registry
Jacqui van Rens
ICD-10 Category: E84
Coverage: European
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
Biobanks
Biobanking and Biomolecular Resources Research Infrastructure – BBMRI
Roxana Merino Martinez
Marina Mora
Telethon Network of Genetic Biobanks
Mirella Filocamo