Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge

Archive ouverte

Mosbah, Héléna | Akinci, Baris | Araújo-Vilar, David | Carrion Tudela, Juan | Ceccarini, Giovanni | Collas, Philippe | Farooqi, I. Sadaf | Fernández-Pombo, Antía | Jéru, Isabelle | Karpe, Fredrik | Krause, Kerstin | Maffei, Margherita | Miehle, Konstanze | Oral, Elif | Perez de Tudela, Naca | Prieur, Xavier | Rochford, Justin | Sanders, Rebecca | Santini, Ferruccio | Savage, David, B | von Schnurbein, Julia | Semple, Robert | Stears, Anna | Sorkina, Ekaterina | Vantyghem, Marie-Christine | Vatier, Camille | Vidal-Puig, Antonio | Vigouroux, Corinne | Wabitsch, Martin

Edité par CCSD ; Société française d'endocrinologie [1939-....] -

International audience. Lipodystrophy syndromes are rare diseases with defects in the development or maintenance of adipose tissue, frequently leading to severe metabolic complications. They may be genetic or acquired, with variable clinical forms, and are largely underdiagnosed. The European Consortium of Lipodystrophies, ECLip, is a fully functional non-profit network of European centers of excellence working in the field of lipodystrophies. It provides a favorable environment to promote large Europe-wide and international collaborations to increase the basic scientific understanding and clinical management of these diseases. It works with patient advocacy groups to increase public awareness. The network also promotes a European Patient Registry of lipodystrophies, as a collaborative research platform for consortium members. The annual congress organized gives an update of the findings of network research groups, highlighting clinical and fundamental aspects. The talks presented during the meeting in Cambridge, UK, in 2022 are summarized in these minutes.

Suggestions

Du même auteur

European lipodystrophy registry: background and structure

Archive ouverte | von Schnurbein, Julia | CCSD

International audience. Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional dep...

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease

Archive ouverte | Ceccarini, Giovanni | CCSD

International audience

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

Archive ouverte | Jéru, Isabelle | CCSD

International audience

Chargement des enrichissements...