Publications by authors named "Bruna Dos Santos Vieira"
Article Synopsis
- Progress in genetic diagnosis and orphan drug legislation has led to new therapies for rare neurogenetic diseases (RNDs), but challenges remain in academia, regulation, and finances.
- The study aims to create a practical framework for developing patient registries that address these challenges and enhance outcomes in care, research, and drug development for RNDs.
- A comprehensive approach combining literature review, interviews with existing registries, and feedback from various stakeholders was used to ensure the framework meets diverse needs and emphasizes key principles like accessible, independent, and trustworthy data governance.
Introduction: Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machines at source enables federated discovery and analysis across data custodians. This facilitates accurate diagnosis, optimal clinical management, and personalised treatments.
View Article and Find Full Text PDFBackground: With hundreds of registries across Europe, rare diseases (RDs) suffer from fragmented knowledge, expertise, and research. A joint initiative of the European Commission Joint Research Center and its European Platform on Rare Disease Registration (EU RD Platform), the European Reference Networks (ERNs), and the European Joint Programme on Rare Diseases (EJP RD) was launched in 2020. The purpose was to extend the set of common data elements (CDEs) for RD registration by defining domain-specific CDEs (DCDEs).
View Article and Find Full Text PDFBackground: The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 16 Common Data Elements (CDEs) that should be implemented by all RD registries. Interoperability, however, requires decisions beyond data elements - including data models, formats, and semantics.
View Article and Find Full Text PDFArticle Synopsis
- Patient data registries help researchers find and use data about rare diseases more easily, making it easier to study them.
- The process to make these registries "FAIR" (Findable, Accessible, Interoperable, and Reusable) includes five steps, from planning to using the data.
- This new way of handling data can be copied by other rare disease registries to make research better and more efficient.
Article Synopsis
- Researchers found a new way to make medical research data easier to find, use, and share right from the start, instead of fixing it later.
- They created a method using special electronic forms that automatically changes data into a format that computers can read and use.
- When tested on the VASCA registry, the method worked well, passing most checks for being easy to access and use.
Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).
Stud Health Technol Inform
June 2020
Background: Connecting currently existing, heterogeneous rare disease (RD) registries would greatly facilitate epidemiological and clinical research. To increase their interoperability, the European Union developed a set of Common Data Elements (CDEs) for RD registries.
Objectives: To implement the CDEs and the FAIR data principles in the Registry of Vascular Anomalies (VASCA).