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

Registries

Ring 14

Ring 14 International

Marco Crimi

ICD10 category Q93.2 – Q07.9

Coverage: International

 

EHDNR

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

 

NIHR

NIH/NCATS Global Rare Diseases Patient Registry Data Repository/GRDR® program 

Yaffa Rubinstein 

ICD-10 Category: NA

Coverage: USA

 

Neptune

RDCRN Registry for Nephrotic Syndrome or Glomerular Disease

Matthias Kretzler 

ICD-10 Category: N04

Coverage: USA

 

EIMD

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

 

SMA

Australian National Spinal Muscular Atrophy Registry

Caroline Graham

ICD-10 Category: G12.0, G12.1

Coverage: Australia

 

DMD

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

Thomas KLOCKGETHER

ICD-10 Category: G11

Coverage: European

 

TTP

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

LeukoFrance Database and Biobank

Odile Boespflug-Tanguy

ICD-10 Category: E75

Coverage: France

 

EPN

Paroxysmal Nocturnal Hemoglobinuria Registry

Domenica Tarusico & Paola Torreri

ICD-10 Category: D59.5

Coverage: Italy

 

Biobanks

BBMRI

Biobanking and Biomolecular Resources Research Infrastructure – BBMRI

Roxana Merino Martinez

 

EuroBioBank

EuroBiobank

Marina Mora

 

Telethon

Telethon Network of Genetic Biobanks

Mirella Filocamo