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Building An Open-source Robotic Stereotaxic Instrument
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[Registries for rare diseases : OSSE - An open-source framework for technical implementation].

Holger Storf1, Jannik Schaaf2, Dennis Kadioglu3

  • 1Medical Informatics Group (MIG), Universitätsklinikum Frankfurt, Haus 33C, Theodor-Stern-Kai 7, 60590, Frankfurt, Deutschland. storf@med.uni-frankfurt.de.

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
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PubMed
Summary
This summary is machine-generated.

Open Source Registry for Rare Diseases (OSSE) software unifies German rare disease registries. It enables data sharing and interoperability while maintaining data protection, facilitating clinical research across institutions.

Keywords:
InteroperabilityMetadataOpen sourceRare diseasesRegistries

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Area of Science:

  • Health Informatics
  • Rare Disease Research
  • Software Engineering

Background:

  • Rare disease registries in Germany face challenges with fragmented data, limited expertise, and incompatible technologies.
  • A unified approach is needed to streamline registry establishment and data management for rare diseases.

Purpose of the Study:

  • To introduce the Open Source Registry for Rare Diseases (OSSE) software.
  • To demonstrate OSSE's capability in unifying rare disease registries and promoting data interoperability.
  • To highlight OSSE's features for data protection and federated searching.

Main Methods:

  • Development of OSSE, a free, open-source software for rare disease patient registries.
  • Implementation of a central metadata repository (MDR) based on ISO/IEC 11179 standards.
  • Integration of a federated search feature and the Mainzelliste pseudonymization service.

Main Results:

  • OSSE facilitates the creation of comparable and mergeable datasets across multiple registries.
  • The system supports linked patient registries with strong data protection measures.
  • Federated search enables data identification for clinical studies without compromising data integrity.
  • An OSSE bridgehead allows integration with non-OSSE registry solutions.
  • Over 10 OSSE installations are in progress at German university hospitals.

Conclusions:

  • OSSE provides a robust framework for establishing interoperable rare disease registries in Germany.
  • The software enhances data sharing for research while ensuring stringent data privacy.
  • Ongoing user feedback drives continuous development and improvement of the OSSE platform.