Abstract
Eclip Meeting Proceedings
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.
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.
| Original language | English |
|---|---|
| Pages (from-to) | 461-468 |
| Number of pages | 8 |
| Journal | Annales d'Endocrinologie |
| Volume | 83 |
| Issue number | 6 |
| Early online date | 4 Oct 2022 |
| DOIs | |
| Publication status | Published - 12 Dec 2022 |
Bibliographical note
Funding Information:The ECLip members are very grateful to the editor in chief Pr Castinetti for his support in the publication of this manuscript. The Center for Rare Endocrine Diseases at the University of Ulm, the Obesity and Lipodystrophy Center at the University Hospital of Pisa, the French Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity, the Unit of Lipodystrophies, Division of Endocrinology and Nutrition at the Clinical University Hospital of Santiago de Compostela, Spain, and and the Federal State Budgetary Institution “National Medical Research Centre of Endocrinology” of the Ministry of Health of Russian Federation are part of the European Consortium of Lipodystrophies. The Obesity and Lipodystrophy Center at the University Hospital of Pisa, Italy is part of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN-Project ID No 739543). The Center for Rare Endocrine Diseases at the University of Ulm, Deutschland, the Obesity and Lipodystrophy Center at the University Hospital of Pisa, Italy, the French Reference Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity are part of the European Reference Network for Rare Endocrine Conditions (EndoERN Project ID No 739572). EndoERN is co-funded by the European Union within the framework of the 3rd Health Program. EndoERN is supported by the European Society of Endocrinology and the European Society for Pediatric Endocrinology. David B Savage was supported by the Wellcome Trust (grant number WT 219417).
Keywords
- Antibody
- Caveolin-1
- Encephalopathy
- EPHX1
- Fatty acid
- Lipodystrophy syndrome
- Metreleptin
- miRNA
- Registry
- Seipin
- Therapeutic education
- Total body irradiation
