Fosscomm 2022

An ICT Ecosystem for Precision Medicine
2022-11-19, 12:30–13:00 (Europe/Athens), Room I

In this talk I am going to present the ICT Ecosystem we designed and developed in the context of the National Network For Genetic Cardiovascular Diseases Study And Prevention Of Sudden Death In The Young On The Basis Of Precision Medicine (GR iCARDIACNET). The Network was launched in July 2019 and is a partnership of public university hospitals and research institutions. The objectives of the Network are (a) the promotion of Precision Medicine in cardiology, (b) the prevention of Juvenile Sudden Death, (c) the study and (d) the treatment of hereditary cardiovascular diseases on the basis of genetic tests in patients and their families. The ICT Ecosystem we created comprises of (a) a registry for the Inherited Diseases of the Heart that stores 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.

GR iCardiacNet is a partnership of major public university hospitals, tertiary hospitals, and
research institutions in Greece, funded by the General Secretariat for Research and Innovation
(former General Secretariat for Research and Technology) of the Ministry of Development and
Investment (GSRI). GR iCardiacNet aims at the promotion of Precision Medicine in cardiology
and the prevention of sudden death in the young including the study of hereditary cardiovascular
diseases in Greece. Some of the main objectives of GR iCardiacNet were the creation of national registries for Inherited Cardiovascular Conditions and genomic data repositories, in addition to the construction of the country's epidemiological map for such diseases. The ICT Ecosystem is based on open technologies, is TRL 9 and is installed in the infrastructure of GRnet.

(Online Talk)

Dr. Irini Fundulaki is a Senior Researcher (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 RDF and XML 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 is 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 and (c) The National Research Network for Neurodegenerative Diseases on the basis of Precision Medicine.