Continue rare cancers collaboration with European Reference Networks after Brexit

The paper briefly describes the role of Orphanet as an informational and educational source for rare diseases. Most attention is given to the Centres of Expertise and European Reference Networks. The authors suggest an easy procedure how to get the basic data about the readiness of the clinics to be recognised for Centres of Expertise at the national level. EUCERD recommendations on quality criteria for centres of expertise are introduced. The coordinators of the potential Centres of Expertise should be contacted and asked to fill in the questionnaire designed to check whether the centre matches the EUCERD recommendations or not. In order for the process to be transparent, the selection criteria of expert resources are listed on national website (www.orphanet.sk). The analysis of the questionnaires has to be carried out at the national level, to map the basic data about the current status. One questionnaire per department or clinic shall be filled in order to allow the evaluation. Clinics will be divided in two groups the ones which achieved the threshold and could be recognised as Centres of Expertise at the National level and the ones which need to be further monitored to reach the threshold.

Download Full-text

European reference networks: moving towards a tangible outcome of the European Union's cross-border healthcare directive?

European Respiratory Journal ◽

10.1183/13993003.01385-2016 ◽

2016 ◽

Vol 48 (6) ◽

pp. 1564-1568 ◽

Cited By ~ 3

Author(s):

Nadia Kamel

Keyword(s):

Cross Border ◽

European Reference Networks ◽

Reference Networks

Download Full-text

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-016-0383-5 ◽

2016 ◽

Vol 11 (1) ◽

Cited By ~ 11

Author(s):

Carla E. M. Hollak ◽

Marieke Biegstraaten ◽

Matthias R. Baumgartner ◽

Nadia Belmatoug ◽

Bruno Bembi ◽

...

Keyword(s):

Healthcare Professionals ◽

Position Statement ◽

Patient Organizations ◽

European Reference Networks ◽

Reference Networks

Download Full-text

Correction to: RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01778-5 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Rosaria Talarico ◽

Sara Cannizzo ◽

Valentina Lorenzoni ◽

Diana Marinello ◽

Ilaria Palla ◽

...

Keyword(s):

Complex Diseases ◽

Care Pathways ◽

European Reference Networks ◽

Reference Networks

An amendment to this paper has been published and can be accessed via the original article.

Download Full-text

The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfu094 ◽

2014 ◽

Vol 29 (suppl 4) ◽

pp. iv9-iv14 ◽

Cited By ~ 7

Author(s):

S. Parker

Keyword(s):

Rare Disease ◽

Disease Patient ◽

Patient Registries ◽

Renal Disorders ◽

European Reference Networks ◽

Reference Networks ◽

Rare Disease Patient

Download Full-text

European Reference Networks: Share, Care, and Cure—Future or Dream?

European Journal of Pediatric Surgery ◽

10.1055/s-0037-1607057 ◽

2017 ◽

Vol 27 (05) ◽

pp. 388-394 ◽

Cited By ~ 4

Author(s):

Stefan Anzelewicz ◽

Claus Petersen ◽

Piotr Czauderna ◽

Rene Wijnen

Keyword(s):

Health Care Quality ◽

Healthcare Providers ◽

Care Quality ◽

The European Union ◽

Surgical Specialty ◽

European Reference Networks ◽

Treatment Knowledge ◽

European Union Legislation ◽

Reference Networks ◽

Improving Health Care

AbstractEuropean Reference Networks (ERNs) are virtual networks that involve healthcare providers across Europe. The aim of ERNs is to tackle complex or rare diseases and conditions that necessitate highly specialized treatment, knowledge and resources.This article summarizes the concept of European Reference Networks in the European Union, legislation and policy behind ERNs from the standpoint of pediatric surgical specialty. There are seven ERNs in which pediatric surgeons are involved, four of which are being discussed, namely ERN PaedCan, eUROGEN ERN, ERN RARE-LIVER and ERNICA. ERNs program is a step towards improving health care quality, reducing access inequalities, and increasing overall medical experience and knowledge but its final impact is yet to be determined.

Download Full-text

CPMS–improving patient care in Europe via virtual case discussions

Endocrine ◽

10.1007/s12020-021-02628-x ◽

2021 ◽

Vol 71 (3) ◽

pp. 549-554

Author(s):

Isabel Mönig ◽

Danielle Steenvoorden ◽

Johan P. de Graaf ◽

S. Faisal Ahmed ◽

Domenica Taruscio ◽

...

Keyword(s):

Reference Network ◽

Web Based ◽

Clinical Patient ◽

European Reference Network ◽

European Reference Networks ◽

Specialized Care ◽

Reference Networks ◽

Case Discussions ◽

Improving Patient Care ◽

Health Care Inequalities

Abstract Purpose The core task of European Reference Networks (ERNs) is to reduce health care inequalities throughout Europe for all patients with rare and complex conditions. A secure web-based application for virtual consultations, the Clinical Patient Management System (CPMS), was developed by the EU to provide expert specialized care for all these patients. This review analyses the opportunities and difficulties that the implementation of this virtual network implies for physicians as well as for the patients. Methods European Reference Network on Rare Endocrine Conditions (Endo-ERN) installed an Operational Helpdesk (OH) to support their members in using CPMS. The OH initiated several actions to facilitate and increase the usage of CPMS. Satisfaction with the system and reasons for low participation rates in virtual case discussions were analyzed by different surveys. Results The number of CPMS users increased constantly, but the active usage of the system remains insufficient. Main reasons were technical difficulties, lack of time and insufficient awareness about CPMS in experts and patients throughout Europe. Still, outcomes of the virtual discussions are considered useful by involved experts and the discussions have provided topics for educational webinars and research. Conclusions CPMS is a secure system with many advantages compared to previous ways of consulting experts but also difficulties that need to be overcome with future strategies. By facilitating its use and increasing awareness among all relevant European experts and patients, CPMS can help to make the existing expertise available for all patients with rare (endocrine) conditions throughout Europe as it was intended.

Download Full-text

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European Journal of Human Genetics ◽

10.1038/s41431-021-00859-0 ◽

2021 ◽

Author(s):

Birte Zurek ◽

◽

Kornelia Ellwanger ◽

Lisenka E. L. M. Vissers ◽

Rebecca Schüle ◽

...

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Disease Genes ◽

Minimum Requirement ◽

Horizon 2020 ◽

European Reference Networks ◽

Patient Representatives ◽

Reference Networks ◽

Collaborative Analysis ◽

First Time

AbstractFor the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

Download Full-text