General 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.
The aim of is to overcome these limitations and to network clinicians, scientists, SMEs and patients in the field of Imprinting disorders. 
The network was established in 2013, and with the support of COST (Action BM1208), was able to organise meetings, training schools, short term scientific missions, as well as patient-expert meetings. With these tools, we encouraged groups from European and non-European countries to collaborate and initiate activities in respect to common and standardised procedures in clinics, diagnostics and research.
The major outcomes are listed below, but further activities are in progress.
The formal COST funding and networking has ended in April 2017, but we currently establish a Society of Imprinting Disorders. Further information will follow soon.
In case you and your group are interested in joining us or have any questions and suggestions, please contact We will be happy to welcome new partners!

Sincerely yours,

Prof. Thomas Eggerman, Chair of the Action

Prof. Irène Netchine, Vice Chair

Major outcomes:

Consensus statement on Pseudohypoparathyroidism
Consensus statement on Beckwith-Wiedemann syndrome > in preparation
Consensus statement on Silver-Russell syndrome:
First global alliance for an Imprinting Disorder: Silver-Russell syndrome
Standardised nomenclature for imprinted loci/differentially methylated region (Draft)
Common questionaire for recording of ID patients phenotype

COST is supported by the EU Framework Programme Horizon 2020