دورية أكاديمية
أعرض في EDS

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

التفاصيل البيبلوغرافية
العنوان: ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
المؤلفون: Casareto L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: lorena.casareto@ior.it., Appelman-Dijkstra NM; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Brandi ML; Bone Metabolic Diseases Unit, Careggi University Hospital (AOU Careggi), Florence, Italy, Florence, Italy., Chapurlat R; National Reference Center for Fibrous Dysplasia of Bone/McCune-Albright syndrome, INSERM, UMR, 1033, Hospices Civils de Lyon, Lyon, France., Cormier-Daire V; French reference center for skelatal dysplasia, Paris Cité University, Imagine Institute, Assistance Publique- Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France., Hamdy NAT; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Heath KE; Skeletal dysplasia multidisciplinary Unit (UMDE) and Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ and CIBERER, ISCIII, Madrid, Spain., Horn J; Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Olso, Norway., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Mohnike K; Universitätsklinikum Magdeburg, University of Magdeburg, Magdeburg, Germany., Sousa SB; Centro Hospitalar e Universitário de Coimbra, EPE, Portugal., Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, and Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Wekre LL; Oslo University Hospital, Oslo, Norway; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway., Zillikens MC; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
مؤلفون مشاركون: European Reference Network on rare BONe Diseases
المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104916. Date of Electronic Publication: 2024 Feb 01.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, c2005-
مواضيع طبية MeSH: Rare Diseases*/diagnosis , Rare Diseases*/therapy , Bone Diseases*, Humans ; Europe
مستخلص: There is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet needs of rare disease patients and many pan-European issues in the field, reducing inequities, and significantly increasing accessibility to high-quality healthcare across Europe. ERNs are virtual networks, involving centres and patient representatives with the general scope to facilitate discussion on complex cases requiring highly specialised competences and trained expertise. ERN BOND - the European Reference Network on rare BONe Diseases - is one of these 24 approved networks with the specific ongoing mission to implement measures facilitating multidisciplinary, holistic, continuous, patient-centred, and participative care provision to patients, and supporting them in the full realisation of their fundamental human rights. ERN BOND includes in 2023 a total of 53 centres of expertise from 20 European countries. Its governing structure installed in March 2017 includes decision-making, operative and consultative committees, which comprise experts in the field and patient representatives ensuring patient's voice and perspectives are taken into account. Over the years, ERN BOND has worked hard to achieve its mission and valuably contribute to the advancement of diagnosis, management, treatment, and research in rare diseases. The network activities are mainly related to (i) the provision of care which collectively involves averagely 2800 patients diagnosed per year, (ii) the development of education for and training of the healthcare personnel consisting until now in the realisation of 7 thematic workshops and 19 webinars, (iii) the dissemination and exchange and spread of knowledge via network's website (https://ernbond.eu/), social media channels, and newsletters, (iv) the management of related data through a disease registry currently mapping over 2300 cases and recording over 600 reported cases, and (v) the enhancement of research which now include two clinical trials endorsed by the network. ERN BOND represents therefore an unprecedented move to improve the healthcare management of patients suffering from rare bone diseases through European collaborations. This network, through the support from the European Health Programme, will continue to pursue its efforts to achieve its goals, always maintaining the patients and their families at the centre of healthcare services.
(Copyright © 2024. Published by Elsevier Masson SAS.)
تواريخ الأحداث: Date Created: 20240131 Date Completed: 20240319 Latest Revision: 20240319
رمز التحديث: 20240319
DOI: 10.1016/j.ejmg.2024.104916
PMID: 38296035
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-0849
DOI:10.1016/j.ejmg.2024.104916