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Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER - Clin Epigenetics (2015)

Bottom Line: Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities.The new consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families.By encompassing all IDs and establishing a wide ranging and collaborative network, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.

View Article: PubMed Central - PubMed

Affiliation: Department of Human Genetics, RWTH Aachen, Aachen, 52074 Germany ; Department of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany.

ABSTRACT
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences 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 new consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing a wide ranging and collaborative network, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.

No MeSH data available.


Related in: MedlinePlus

Structure and activities of the EUCID.net/COST BM1208, all aiming on networking of researchers, clinicians, SMEs and patients organisation working in the field of IDs.
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Fig2: Structure and activities of the EUCID.net/COST BM1208, all aiming on networking of researchers, clinicians, SMEs and patients organisation working in the field of IDs.

Mentions: Based on the COST rules, the EUCID.net includes the following partcipants (Figure 2): A Chair and a Vice-Chair, both elected, who preside over the management committee (MC). The MC coordinates the key issues of the Action. It consists of two representatives per participating country, including the Coordinator and Co-Coordinator of each WG. It is responsible for the allocation of funds and oversees for the overall strategy of the network. The MC manages operations of the WGs, the programme of international symposia, as well as training and exchange programmes. The MC fosters the exchange of scientific knowledge and active collaborators. Due to its smaller size, the steering committee (SC), consisting of the WG co/coordinators, represents a more flexible instrument that allows the close monitoring of the progress of the Action and acts as a link between the WGs and the different groups. Under the directions of the MC, the SC is furthermore responsible for the interaction with existing platforms in Europe and across the world and relevant stakeholders (for example, IRDiRC, EURORDIS, Orphanet, EMQN, EUCERD). Each of the five WGs is chaired by a WG leader (Coordinator) and a co-leader who have been elected by the MC during the kick-off meeting. Leader and co-leader are responsible for the coordination, organisation and supervision of the WG’s meetings. Each WG is constituted by different teams, but the teams can be involved in different WGs. All members of each WG will meet once a year to establish the guidelines and SOPs as well as to exchange scientific knowledge and data. The investigators of each WG communicate through regular conference calls and web-based interfaces. All five WGs are interrelated and interact through the SC. WG 1 is closely related to WG 2 and 3, establishing tools and guidelines for phenotype characterization. In turn, WG 2 and 3 are connected to deciphering the molecular basis of IDs and to translate the achieved knowledge into diagnostic application. Furthermore, they contribute to the ID classification and development of clinical guidelines in WG 1. All efforts from WG1 3 support and stimulate the activities in WG 4 to initiate new directions and projects. WG1 4 support WG 5 in the promulgation of the data and achieved knowledge, inter alia by implementation of WG specific information on the website in a password protected area.Figure 2


Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER - Clin Epigenetics (2015)

Structure and activities of the EUCID.net/COST BM1208, all aiming on networking of researchers, clinicians, SMEs and patients organisation working in the field of IDs.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4362648&req=5

Fig2: Structure and activities of the EUCID.net/COST BM1208, all aiming on networking of researchers, clinicians, SMEs and patients organisation working in the field of IDs.
Mentions: Based on the COST rules, the EUCID.net includes the following partcipants (Figure 2): A Chair and a Vice-Chair, both elected, who preside over the management committee (MC). The MC coordinates the key issues of the Action. It consists of two representatives per participating country, including the Coordinator and Co-Coordinator of each WG. It is responsible for the allocation of funds and oversees for the overall strategy of the network. The MC manages operations of the WGs, the programme of international symposia, as well as training and exchange programmes. The MC fosters the exchange of scientific knowledge and active collaborators. Due to its smaller size, the steering committee (SC), consisting of the WG co/coordinators, represents a more flexible instrument that allows the close monitoring of the progress of the Action and acts as a link between the WGs and the different groups. Under the directions of the MC, the SC is furthermore responsible for the interaction with existing platforms in Europe and across the world and relevant stakeholders (for example, IRDiRC, EURORDIS, Orphanet, EMQN, EUCERD). Each of the five WGs is chaired by a WG leader (Coordinator) and a co-leader who have been elected by the MC during the kick-off meeting. Leader and co-leader are responsible for the coordination, organisation and supervision of the WG’s meetings. Each WG is constituted by different teams, but the teams can be involved in different WGs. All members of each WG will meet once a year to establish the guidelines and SOPs as well as to exchange scientific knowledge and data. The investigators of each WG communicate through regular conference calls and web-based interfaces. All five WGs are interrelated and interact through the SC. WG 1 is closely related to WG 2 and 3, establishing tools and guidelines for phenotype characterization. In turn, WG 2 and 3 are connected to deciphering the molecular basis of IDs and to translate the achieved knowledge into diagnostic application. Furthermore, they contribute to the ID classification and development of clinical guidelines in WG 1. All efforts from WG1 3 support and stimulate the activities in WG 4 to initiate new directions and projects. WG1 4 support WG 5 in the promulgation of the data and achieved knowledge, inter alia by implementation of WG specific information on the website in a password protected area.Figure 2

Bottom Line: Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities.The new consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families.By encompassing all IDs and establishing a wide ranging and collaborative network, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.

View Article: PubMed Central - PubMed

Affiliation: Department of Human Genetics, RWTH Aachen, Aachen, 52074 Germany ; Department of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany.

ABSTRACT
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences 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 new consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing a wide ranging and collaborative network, EUCID.net brings together a wide variety of expertise and interests to engender new collaborations and initiatives.

No MeSH data available.


Related in: MedlinePlus