Core Implementation Group

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


Ring 14

Ring 14 International

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


Spain RDR

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


Global FKRP

Global FKRP Registry

Agata Robertson & Volker Straub

ICD-10 Category: G71.0

Coverage: International


The International...

The International Dysferlinopathy Registry

Gaëlle Blandin

ICD-10 Category: G71.0

Coverage: International


The European SCA

The European SCA (spinocerebellar ataxia) registry, EUROSCA-R


ICD-10 Category: G11

Coverage: European



International Registry of Recurrent and Familial Hemolytic Uremic Syndrome (HUS) and Thrombocytopenic Purpura (TTP)

Marina Noris and Erica Daina

ICD-10 Category: D59.3, M31.1

Coverage: International


European CF

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




Biobanking and Biomolecular Resources Research Infrastructure – BBMRI

Roxana Merino Martinez




Marina Mora



Telethon Network of Genetic Biobanks

Mirella Filocamo