The VASCERN European Reference Network: An overview

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

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A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Epilepsia Open ◽

10.1002/epi4.12459 ◽

2020 ◽

Author(s):

Tobias Baumgartner ◽

Mar Carreño ◽

Rodrigo Rocamora ◽

Francesca Bisulli ◽

Antonella Boni ◽

...

Keyword(s):

Clinical Practice ◽

Reference Network ◽

European Reference Network

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eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01604-4 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Alessia Paglialonga ◽

Raffaella Gaetano ◽

Leema Robert ◽

Marine Hurard ◽

Luisa Maria Botella ◽

...

Keyword(s):

Rare Diseases ◽

Working Group ◽

Vascular Diseases ◽

Mobile App ◽

Reference Network ◽

Training And Education ◽

Digital Platforms ◽

Patient Organizations ◽

European Reference Network ◽

Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

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Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Familial Cancer ◽

10.1007/s10689-018-0110-6 ◽

2018 ◽

Vol 18 (2) ◽

pp. 281-284 ◽

Cited By ~ 2

Author(s):

Janet R. Vos ◽

◽

Lisette Giepmans ◽

Claas Röhl ◽

Nicoline Geverink ◽

...

Keyword(s):

Hereditary Cancer ◽

Reference Network ◽

European Reference Network ◽

Genetic Tumour

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Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

Frontiers in Neurology ◽

10.3389/fneur.2021.646841 ◽

2021 ◽

Vol 12 ◽

Author(s):

Marenka Smit ◽

Alberto Albanese ◽

Monika Benson ◽

Mark J. Edwards ◽

Holm Graessner ◽

...

Keyword(s):

Information Exchange ◽

Wide Spectrum ◽

Neurological Diseases ◽

Evidence Base ◽

Diagnostic Process ◽

Reference Network ◽

Novel Treatments ◽

European Reference Network ◽

Specialized Care ◽

The Central Nervous System

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms. A network of clinicians, scientists, and patients could provide resources to facilitate information exchange at different levels, share mutual experiences, and support each other's innovative projects. In the past, collaborative initiatives have been launched, including the American Dystonia Coalition, the European Cooperation in Science and Technology (COST—which however only existed for a limited time), and the Dutch DystonieNet project. The European Reference Network on Rare Neurological Diseases includes dystonia among other rare conditions affecting the central nervous system in a dedicated stream. Currently, we aim to broaden the scope of these initiatives to a comprehensive European level by further expanding the DystoniaNet network, in close collaboration with the ERN-RND. In line with the ERN-RND, the mission of DystoniaNet Europe is to improve care and quality of life for people with dystonia by, among other endeavors, facilitating access to specialized care, overcoming the disparity in education of medical professionals, and serving as a solid platform to foster international clinical and research collaborations. In this review, both professionals within the dystonia field and patients and caregivers representing Dystonia Europe highlight important unsolved issues and promising new strategies and the role that a European network can play in activating them.

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