Action Information

European Network of Human Congenital Imprinting Disorders

Imprinting disorders (IDs) are a group of rare congenital diseases affecting growth, development and metabolism with a lifelong impact on patients´ quality of life. Despite their common underlying (epi)genetic aetiologies, IDs are usually studied separately by small groups working in isolation, and the basic pathogenesis and long term clinical consequences of IDs remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe and standardisation of diagnostic and clinical management is lacking. This COST Action will, for the first time, draw together researchers of all eight known human IDs in an interdisciplinary pan-European Network for Human Congenital IDs, working to advance understanding of the pathophysiology with the major aim of translating this knowledge to improvement of diagnostic and clinical management for the benefit of the patients and their families. The Action will harmonise a common ID classification system, develop guidelines for treatment through consensus, create standard operation procedures (SOPs) for diagnosis based on best current practice, coordinate databases held in different countries to make them compatible and useful as a springboard for collective research initiatives, identify new imprinting disorders through collaborative effort, educate researchers and stimulate translational exchange. The ID network will join forces and complement studies to reduce health care costs and increase the life quality of patients.

The Action consists of 5 working groups (WGs) with designated areas. New members and innovative contribute to the Action are very much appreciated. If you want to participate in the Action activities and/or join one or several working groups please don’t hesitate to contact us.

Sincerely yours,

Prof. Thomas Eggerman, Chair of the Action

Prof. Irène Netchine, Vice Chair

Recent outcomes:

First global alliance for an Imprinting Disorder: Silver-Russell syndrome
EMQN SRS Summary Report
EMQN BWS Summary Report
Standardised nomenclature for imprinted loci/differentially methylated region (Draft)
Common questionaire for recording of ID patients phenotype
Acknowledgement for joint publications
Training School
Pilot quality assessment scheme for Silver-Russell and Beckwith-Wiedemann Syndrome

COST is supported by the EU Framework Programme Horizon 2020