Together4RD position statement on collaboration between European reference networks and industry

Article Mathematical & Computational Biology

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

Rajaram Kaliyaperumal et al.

Summary: The European Platform on Rare Disease Registration aims to address the fragmentation of rare disease patient data in Europe by establishing standards for integration and interoperability. Through the creation of semantically grounded models and the use of domain ontologies, they have successfully mapped and transformed the data. They have also developed a reusable ETL pipeline to assist rare disease data repositories in creating FAIR data.

JOURNAL OF BIOMEDICAL SEMANTICS (2022)

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Review Endocrinology & Metabolism

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

Stefan Koelker et al.

Summary: Patient registries are recognized as key instruments for evidence-based medicine and research on rare diseases in the European Union. They can be used for various purposes including describing disease history, improving case definition, evaluating the impact of strategies, and informing policy makers.

FRONTIERS IN ENDOCRINOLOGY (2022)

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Article Medical Informatics

Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

Haitham Abaza et al.

Summary: This study introduces and evaluates a joint initiative that combines the efforts of the European Platform on Rare Disease Registration Platform, ERNs, and European Joint Programme on Rare Diseases to extend RD CDEs, aiming to improve the semantic interoperability of RD registries and enhance the quality of RD research. A conference and survey were conducted, resulting in the identification of 10 domain groups to define DCDEs.

JMIR MEDICAL INFORMATICS (2022)

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Article Genetics & Heredity

Our greatest untapped resource: our patients

Matt Bolz-Johnson et al.

Summary: Healthcare is evolving to meet changing needs, with patients and clinicians at the forefront of new evidence and innovation. In the rare diseases field, a new model of care is needed where patients are active partners. Healthcare models are shifting towards true patient-clinical partnerships to increase efficiency and effectiveness in providing care.

JOURNAL OF COMMUNITY GENETICS (2021)

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Article Genetics & Heredity

European Reference Networks: challenges and opportunities

Birute Tumiene et al.

Summary: ERNs play a crucial role in addressing rare diseases across Europe, but they face various challenges such as governance, funding, collaboration, etc., which require cross-sector, multi-stakeholder, and European authority cooperation and decision-making support.

JOURNAL OF COMMUNITY GENETICS (2021)

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Review Endocrinology & Metabolism

CPMS-improving patient care in Europe via virtual case discussions

Isabel Moenig et al.

Summary: The core task of European Reference Networks (ERNs) is to reduce healthcare inequalities for patients with rare and complex conditions throughout Europe, with the Clinical Patient Management System (CPMS) aiming to provide expert specialized care. Despite an increase in CPMS users, active usage remains insufficient due to technical difficulties, time constraints, and lack of awareness among experts and patients.

ENDOCRINE (2021)

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Article Genetics & Heredity