In this talk we are going to discuss our experience in building a real ICT Ecosystem to support the data life cycle for Precision Medicine Projects and provide our thoughts on how to use knowledge graphs methods for managing the data and produced knowledge. The systems are used by clinicians to record clinical and genomic data and support a fully digitized data life cycle. The ICT Ecosystem we created comprises of (a) a registry for the storing clinical patient data, (b) a Genomic Data Repository, and (c) an Epidemiological Map Application that leads to the identification of populations with pathogenic variants and supports a paper-less data life-cycle. Bio: Irini FUNDULAKI
Institute of Computer Science, Foundation for Research and Technology e-mail: fundul@ics.forth.gr Dr. Irini Fundulaki is Director of Research (Grade A) of the Information Systems Laboratory at the Institute of Computer Science (ICS), FORTH. She received her Ph.D. degree (Diplôme de Docteur en Informatique) from the Conservatoire National des Arts et Métiers Paris (C.N.A.M, France.) in 2003 under the supervision of Prof. Michel Scholl, with co-advisors Prof. Bernd Amann (LIP 6 - Université de Pierre et Marie Curie, Paris, France) and Prof. Catriel Beeri (The Hebrew University of Jerusalem, Israel). From 2003 to 2006 she worked at the Network Data and Services Research Department of Bell Laboratories, Lucent Technologies (USA), first as a Postgraduate researcher and then as a Member of Technical Staff under the supervision of Rick Hull where she worked on the topic of personal data management focusing on access control. In 2006 she moved to the Database Group of Prof. Peter Buneman of the Laboratory for Foundations of Computer Science of the School of Informatics, University of Edinburgh (UK) where she continued her work on access control for XML data. In 2008 she returned to Greece as a Research Associate (Grade C) at the Information Systems Laboratory of ICS- FORTH. She is interested in database management and information systems for Web Data and more specifically on provenance models for RDF data, storage and indexing Schemes for RDF data provenance and access control for linked data. She is interested in Benchmarking for Linked Data and as the scientific responsible for the Linked Data Benchmark Council (LDBC) and Holistic Benchmarking for Big Linked Data (HOBBIT) FP7 and H2020 European projects respectively, she designed and developed benchmarks for instance matching, linking and versioning. Since 2018 she has been the scientific supervisor on behalf of the Institute of Computer Science – FORTH in the National Flagship Actions on Precision Medicine: (a) The Hellenic Precision Medicine Network on Cancer (b) The National Network For Genetic Cardiovascular Diseases Study And Prevention Of Sudden Death In The Young On The Basis Of Precision Medicine (c) The National Research Network for Neurodegenerative Diseases on the basis of Precision Medicine and (d) The Hellenic Network on Molecular Oncology and (e) National research network to elucidate the genetic basis of Alzheimer's and Parkinson's neurodegenerative diseases. She has published a number of publications in several international venues (conferences and journals) and has served as a Program Committee Member and Track Chair for various conferences.
