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H2020Staff exchange2014–2018

SAGE-CARE · SemAntically integrating Genomics with Electronic health records for Cancer CARE

Horizon 2020 — Marie Skłodowska-Curie Actions

Duration
2014-12-01 → 2018-11-30
EU contribution
€450,000
Participants
5
Scheme
MSCA-RISE

Lines connect the coordinator with its partners.

Results in brief

SemAntically integrating Genomics with Electronic health records for Cancer CARE

The Sage-Care project brings together subject matter experts to create a holistic informatics platform for rapidly integrating genomic sequences, electronic health records (EHR) and research repositories to enable personalised medicine strategies for malignant melanoma treatment in a clinical setting. The project addresses the disease melanoma, which is a malignant tumour of melanocytes with about 160,000 new cases diagnosed annually, with, high prevalence among Europeans. This is a serious health issue that affects EU citizens and the proposed project aims to impact the treatment of this disease by the integration of genomic markers, through secure semantic technology, with the myriad of information sources in electronic health records, genomic data, related initiatives and research publication repositories. This provides a basis for personalised treatments by allowing health professional to make reasoned queries over holistic information sources. This aligns with the core of this proposal, which is driven by an actual clinical need to extract as much meaning as possible from biomedical data, by linking and analysing genomic, research and EHR data for cancer management. The project has been broken down into the following core objectives: • Elucidation of software specifications and clinical functional requirements with end users so as to maximise impact on the health care of EU citizens. • Development of high performance computing algorithms to rapidly annotate genomic sequences in order to link gene ontologies to electronic health records. • Development of ontologies and semantics search technology to allow clinicians to rapidly form a holistic view of clinical scenarios for patients. • Protection of all EHRs and genomic sequences within a state of the art security framework. • Integration of platform components

Data: CORDIS, © European Union

Project objective

The aim of this project is to bring together subject matter experts from the academic and non-academic sectors to create a holistic informatics platform for rapidly integrating genomic sequences, electronic health records (EHRs) and research repositories to enable personalised medicine strategies for malignant melanoma treatment.The consortium has engaged in a pre-proposal process with active clinical end users who have highlighted the need for more innovative approaches for the treatment of cancer - in particular the treatment of malignant melanoma, including inter alia the ability to rapidly query of geno-phenotype associations in melanoma such as the recently discovered rs2301641 SNP variability with ABCB5 function and CDK4 gene indicators . Hence we aim to develop a scalable HPC framework that allows the semantic interlinking between spatially distributed electronic patients’ health records, associated genomic sequences and published research, thereby allowing clinicians to make reasoned queries over vast knowledge bases for the diagnosis, treatment and management of malignant melanoma.

Original text from CORDIS.

Participants

  • HOCHSCHULE DARMSTADT (UNIVERSITY OF APPLIED SCIENCES H-DA) · DarmstadtCoordinatorGermany
  • GIOUMPITEK MELETI SCHEDIASMOS YLOPOIISI KAI POLISI ERGON PLIROFORIKIS ETAIREIA PERIORISMENIS EFTHYNIS · ATHINAGreece
  • NSILICO LIFE SCIENCE LIMITED · DOUGLASIreland
  • THE UNIVERSITY OF EDINBURGH · EdinburghUnited Kingdom
  • UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II · NapoliItaly

Links

Data: CORDIS, © European Union