{"id":13312,"date":"2025-07-03T18:19:10","date_gmt":"2025-07-03T16:19:10","guid":{"rendered":"https:\/\/www.crs4.it\/projects\/ejp-rd\/"},"modified":"2026-04-02T12:33:15","modified_gmt":"2026-04-02T10:33:15","slug":"ejp-rd","status":"publish","type":"projects","link":"https:\/\/www.crs4.it\/en\/projects\/ejp-rd\/","title":{"rendered":"EJP RD"},"content":{"rendered":"

The European Joint Programme on Rare Diseases brings over 130 institutions from 35 countries<\/strong>: 27 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Croatia, Ireland, Italy, Netherlands, Latvia, Lithuania, Malta, Poland, Portugal, Romania, Spain, Sweden, Slovakia, Slovenia, United Kingdom), 7 associated (Armenia, Georgia, Israel, Norway, Serbia, Switzerland, Turkey) and Canada,\u00a0 to create a comprehensive,\u00a0sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.<\/strong>
\nAs recognized by the Council Recommendation 2009\/C 151\/02, rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients.
\nIn the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and most importantly, adapting them to the needs of end-users through implementation tests in real settings. To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives:<\/strong>
\n(i) To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe\/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how;
\n(ii) To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients.<\/p>\n","protected":false},"featured_media":11690,"template":"","meta":{"_acf_changed":false},"gruppo":[123],"class_list":["post-13312","projects","type-projects","status-publish","has-post-thumbnail","hentry","gruppo-data-intensive-computing-en"],"acf":{"title":"European Joint Programme on Rare Diseases","acronym":"EJP RD","project_uuid":"d2d7a9c8-c58d-11e8-9d48-0030485a3849","start_date":"01\/01\/2019","end_date":"31\/08\/2024","funder":"EU H2020","partners":"\n\n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n
Nome<\/th>\n Nazione<\/th>\n Ruolo<\/th>\n <\/tr>\n\n
INSERM<\/a><\/td>\n France<\/td>\n Coordinator<\/td>\n <\/tr>\n\n
FONDS ZUR F\u00d6RDERUNG DER WISSENSCHAFTLICHEN FORSCHUNG<\/a><\/td>\n Austria<\/td>\n Partner<\/td>\n <\/tr>\n\n
Austrian Institute of Technology GmbH<\/a><\/td>\n Austria<\/td>\n Partner<\/td>\n <\/tr>\n\n
LUDWIG BOLTZMANN GESELLSCHAFT GMBH<\/a><\/td>\n Austria<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDS DE LA RECHERCHE SCIENTIFIQUE- FNRS<\/a><\/td>\n Belgium<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDS VOOR WETENSCHAPPELIJK ONDERZOEK-VLAANDEREN<\/a><\/td>\n Belgium<\/td>\n Partner<\/td>\n <\/tr>\n\n
Katholieke Universiteit<\/a><\/td>\n Belgium<\/td>\n Partner<\/td>\n <\/tr>\n\n
MINISTRY OF EDUCATION YOUTH AND SPORTS<\/a><\/td>\n Czech Republic<\/td>\n Partner<\/td>\n <\/tr>\n\n
SOTSIAALMINISTEERIUM<\/a><\/td>\n Estonia<\/td>\n Partner<\/td>\n <\/tr>\n\n
SUOMEN AKATEMIA<\/a><\/td>\n Finland<\/td>\n Partner<\/td>\n <\/tr>\n\n
AGENCE NATIONALE DE LA RECHERCHE<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDATION MALADIES RARES<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
Deutschen Zentrums f\u00fcr Luft- und Raumfahrt<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
UNIVERSITAETSKLINIKUM AACHEN<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
CHARITE - UNIVERSITAETSMEDIZIN BERLIN<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
UNIVERSITAETSKLINIKUM FREIBURG<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
NEMZETI KUTATASI FEJLESZTESI ES INNOVACIOS HIVATAL<\/a><\/td>\n Hungary<\/td>\n Partner<\/td>\n <\/tr>\n\n
THE HEALTH RESEARCH BOARD<\/a><\/td>\n Ireland<\/td>\n Partner<\/td>\n <\/tr>\n\n
MINISTERO DELLA SALUTE - Italia<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
Regione Toscana<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDAZIONE PER LA RICERCA FARMACOLOGICA GIANNI BENZI ONLUS<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDAZIONE REGIONALE PER LA RICERCA BIOMEDICA - Lombardia<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDAZIONE TELETHON<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
Istituto Superiore di Sanit\u00e0<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
CONSORZIO PER VALUTAZIONI BIOLOGICHE E FARMACOLOGICHE<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
TEDDY - EUROPEAN NETWORK OF EXCELLENCE FOR PAEDIATRIC CLINICAL RESEARCH<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
MINISTERO DELL'ISTRUZIONE, DELL'UNIVERSIT\u00c0 E DELLA RICERCA<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
Lietuvos mokslo taryba<\/a><\/td>\n Lithuania<\/td>\n Partner<\/td>\n <\/tr>\n\n
VIESOJI ISTAIGA VILNIAUS UNIVERSITETO LIGONINE SANTAROS KLINIKOS<\/a><\/td>\n Lithuania<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDS NATIONAL DE LA RECHERCHE<\/a><\/td>\n Luxembourg<\/td>\n Partner<\/td>\n <\/tr>\n\n
ZORGONDERZOEK NEDERLAND ZON<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
ACADEMISCH ZIEKENHUIS GRONINGEN<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
UNIVERSITEIT MAASTRICHT<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
NARODOWE CENTRUM BADAN I ROZWOJU<\/a><\/td>\n Poland<\/td>\n Partner<\/td>\n <\/tr>\n\n
WARSZAWSKI UNIWERSYTET MEDYCZNY<\/a><\/td>\n Poland<\/td>\n Partner<\/td>\n <\/tr>\n\n
GDANSKI UNIWERSYTET MEDYCZNY<\/a><\/td>\n Poland<\/td>\n Partner<\/td>\n <\/tr>\n\n
INSTYTUT POMNIK CENTRUM ZDROWIA DZIECKA<\/a><\/td>\n Poland<\/td>\n Partner<\/td>\n <\/tr>\n\n
FUNDACAO PARA A CIENCIA E A TECNOLOGIA<\/a><\/td>\n Portugal<\/td>\n Partner<\/td>\n <\/tr>\n\n
INSTITUTO NACIONAL DE SAUDE DR. RICARDO JORGE<\/a><\/td>\n Portugal<\/td>\n Partner<\/td>\n <\/tr>\n\n
SLOVENSKA AKADEMIA VIED<\/a><\/td>\n Slovenia<\/td>\n Partner<\/td>\n <\/tr>\n\n
INSTITUTO DE SALUD CARLOS III<\/a><\/td>\n Spain<\/td>\n Partner<\/td>\n <\/tr>\n\n
FUNDACIO CENTRE DE REGULACIO GENOMICA<\/a><\/td>\n Spain<\/td>\n Partner<\/td>\n <\/tr>\n\n
Universitad Polit\u00e9cnica de Madrid<\/a><\/td>\n Spain<\/td>\n Partner<\/td>\n <\/tr>\n\n
CONSORCIO CENTRO DE INVESTIGACION BIOMEDICA EN RED M.P.<\/a><\/td>\n Spain<\/td>\n Partner<\/td>\n <\/tr>\n\n
VETENSKAPSRADET - SWEDISH RESEARCH COUNCIL<\/a><\/td>\n Sweden<\/td>\n Partner<\/td>\n <\/tr>\n\n
VERKET FOR INNOVATIONSSYSTEM<\/a><\/td>\n Sweden<\/td>\n Partner<\/td>\n <\/tr>\n\n
University of Leicester<\/a><\/td>\n United Kingdom<\/td>\n Partner<\/td>\n <\/tr>\n\n
University of Liverpool <\/a><\/td>\n United Kingdom<\/td>\n Partner<\/td>\n <\/tr>\n\n
University of Newcastle Upon Tyne<\/a><\/td>\n United Kingdom<\/td>\n Partner<\/td>\n <\/tr>\n\n
ST ANNA KINDERKREBSFORSCHUNG VEREIN<\/a><\/td>\n Austria<\/td>\n Partner<\/td>\n <\/tr>\n\n
ASSISTANCE PUBLIQUE HOPITAUX DE PARIS<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
UNIVERSITATSKLINIKUM HEIDELBERG<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
EBERHARD KARLS UNIVERSITAET TUEBINGEN<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
JOHANN WOLFGANG GOETHE-UNIVERSITAET FRANKFURT AM MAIN<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
ISTITUTO ORTOPEDICO RIZZOLI<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n\n
ACADEMISCH MEDISCH CENTRUM BIJ DE UNIVERSITEIT VAN AMSTERDAM<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
ACADEMISCH ZIEKENHUIS LEIDEN<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
STICHTING KATHOLIEKE UNIVERSITEIT<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
INFRAFRONTIER GMBH<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
BIOBANKS AND BIOMOLECULAR RESOURCES RESEARCH INFRASTRUCTURE CONSORTIUM <\/a><\/td>\n Austria<\/td>\n Partner<\/td>\n <\/tr>\n\n
EUROPEAN CLINICAL RESEARCH INFRASTRUCTURE NETWORK<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
EATRIS ERIC<\/a><\/td>\n The Netherlands<\/td>\n Partner<\/td>\n <\/tr>\n\n
European Molecular Biology Laboratory<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
MINISTRY OF HEALTH - ISRAEL<\/a><\/td>\n Israel<\/td>\n Partner<\/td>\n <\/tr>\n\n
SCHWEIZERISCHER NATIONALFONDS ZUR FORDERUNG DER WISSENSCHAFTLICHEN FORSCHUNG<\/a><\/td>\n Switzerland<\/td>\n Partner<\/td>\n <\/tr>\n\n
BLACKSWAN FOUNDATION<\/a><\/td>\n Switzerland<\/td>\n Partner<\/td>\n <\/tr>\n\n
TURKIYE BILIMSEL VE TEKNOLOJIK ARASTIRMA KURUMU<\/a><\/td>\n Turkey<\/td>\n Partner<\/td>\n <\/tr>\n\n
ACIBADEM MEHMET ALI AYDINLAR UNIVERSITY<\/a><\/td>\n Turkey<\/td>\n Partner<\/td>\n <\/tr>\n\n
HACETTEPE UNIVERSITESI<\/a><\/td>\n Turkey<\/td>\n Partner<\/td>\n <\/tr>\n\n
CANADIAN INSTITUTES OF HEALTH RESEARCH<\/a><\/td>\n Canada<\/td>\n Partner<\/td>\n <\/tr>\n\n
FONDS DE RECHERCHE DU QUEBEC - SANTE<\/a><\/td>\n Canada<\/td>\n Partner<\/td>\n <\/tr>\n\n
INSERM TRANSFERT SA<\/a><\/td>\n France<\/td>\n Partner<\/td>\n <\/tr>\n\n
Deutsche Forschungsgemeinschaft<\/a><\/td>\n Germany<\/td>\n Partner<\/td>\n <\/tr>\n\n
AZIENDA SANITARIA UNIVERSITARIA FRIULI CENTRALE Italy<\/a><\/td>\n Italy<\/td>\n Partner<\/td>\n <\/tr>\n<\/table>","proj_website":"http:\/\/www.ejprarediseases.org\/","project_status":"Completed","project_coordinator":[{"ID":10226,"post_author":"4","post_date":"2025-06-30 17:23:05","post_date_gmt":"2025-06-30 15:23:05","post_content":"Francesca coordinates the digital health research activities on the Visual and Data-intensive Computing Sector at CRS4 (prev. Research Programs Digital Health\/Healthcare Flows). Her research activity spans the opportunities and problems arising from the application of computer science to medicine, working on interoperability, traceability, telemedicine and modelling of data and processes in the clinical context. In her 20 years of research experience she has cultivated ongoing collaborations with public and private organisations, including research institutions, hospitals and industries operating in the health IT sector, with particular attention to the direct application of research results in clinical practice. She holds a Ph.D. in Innovation Sciences and Technologies from the University of Cagliari and a degree in Biomedical Engineering from the University of Genoa. Her present research interests are mainly focused on the modelling of biomedical data and processes, with a particular attention to interoperability and traceability, also in the perspective of the application of the FAIR Principles. In particular, she is currently working: on an integration profile about specimen tracking (SET profile), with the IHE PaLM Technical committee; on the modelling of genetic data through the openEHR formalism, with openEHR International; and a standard under development about provenance information in the biotechnology domain (Standard ISO 23494, ISO Technical Committee 276), with BBMRI-ERIC, the European research infrastructure for biobanking.","post_title":"Francesca Frexia","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"francesca-frexia","to_ping":"","pinged":"","post_modified":"2026-04-05 20:11:18","post_modified_gmt":"2026-04-05 18:11:18","post_content_filtered":"","post_parent":0,"guid":"https:\/\/www.crs4.it\/people\/francesca-frexia\/","menu_order":0,"post_type":"people","post_mime_type":"","comment_count":"0","filter":"raw"}],"team_members":[{"ID":9986,"post_author":"4","post_date":"2025-06-30 17:26:23","post_date_gmt":"2025-06-30 15:26:23","post_content":"Graduated in Electronic Engineering at the University of Cagliari in 2003, Alessandro Sulis successively took a II level Master in Information Technology, at the Center of Excellence CEFRIEL in Milan. He has a decade of experience in interoperability between clinical systems according to the main standards and best practices and actively collaborates with international reference organizations (IHE and HL7 International). In particular, since 2013 he has been Monitor at the IHE European Connectathon and since 2021 he has been Co-Chair of the Technical Committee of the IHE PaLM (Pathology and Laboratory Medicine) domain, where he is also the main editor of the SET Profile (Specimen Event Tracking), for sample traceability. His current research interests include the study and promotion of FAIR principles, in the context of projects related to FAIRification of data and metadata in the clinical domain.","post_title":"Alessandro Sulis","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"alessandro-sulis","to_ping":"","pinged":"","post_modified":"2026-04-05 20:14:13","post_modified_gmt":"2026-04-05 18:14:13","post_content_filtered":"","post_parent":0,"guid":"https:\/\/www.crs4.it\/people\/alessandro-sulis\/","menu_order":0,"post_type":"people","post_mime_type":"","comment_count":"0","filter":"raw"},{"ID":10291,"post_author":"4","post_date":"2025-06-30 17:24:26","post_date_gmt":"2025-06-30 15:24:26","post_content":"Since the degree in Computer Science from the Universit\u00e0 degli Studi di Cagliari in 2008, he deals with research and development in the area of Clinical Informatics and Biomedicine. He has worked since 2010 in the Digital Health group at CRS4, where he is involved in design and development of application focused on integration among clinical domains, telemedicine. In particular, in the context of telemedicine, he participated in the creation of a prototype for ultrasound teleconsultation. Regarding interoperability, he collaborated to the implementation of traceability systems for clinical processes, acquiring a deep knowledge of international standards and guidelines of the field, like HL7 and IHE. He is the main developer of HL7apy, an open-source Python package to handle HL7 v2 messages and he participated as Monitor to the IHE Connectathon in 2017, 2018 and 2020. More recently he has focused his work on data FAIRification concerning the sharing of data about rare diseases and the development of the biomedical research registry of the Region of Sardinia.","post_title":"Vittorio Meloni","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"vittorio-meloni","to_ping":"","pinged":"","post_modified":"2026-04-05 20:12:32","post_modified_gmt":"2026-04-05 18:12:32","post_content_filtered":"","post_parent":0,"guid":"https:\/\/www.crs4.it\/people\/vittorio-meloni\/","menu_order":0,"post_type":"people","post_mime_type":"","comment_count":"0","filter":"raw"},{"ID":10285,"post_author":"4","post_date":"2025-06-30 17:24:17","post_date_gmt":"2025-06-30 15:24:17","post_content":"Cecilia Mascia got her master's degree in Biomedical Engineering in 2013 at the Polytechnic of Turin, with a thesis focused on the evaluation of a telemedicine system developed during an internship at the Digital Health group of the CRS4. In 2015 she collaborated with the Department of Mechanical, Chemical and Materials Engineering of the University of Cagliari in a research project on the analysis, modelling and re-engineering of processes related to the drug supply chain in a private hospital. She joined the DH group in 2014, mainly involved in clinical data modelling activities according to international specifications (openEHR, in particular, and HL7 CDA) for EHR interoperability purposes. She is currently working with the BBMRI-ERIC consortium to draft a proposal of a provenance information model for the biotechnology domain (ISO TC 276) and with the OpenEHR consortium for the definition of genomic data models.","post_title":"Cecilia Mascia","post_excerpt":"","post_status":"publish","comment_status":"closed","ping_status":"closed","post_password":"","post_name":"cecilia-mascia","to_ping":"","pinged":"","post_modified":"2026-04-05 20:12:23","post_modified_gmt":"2026-04-05 18:12:23","post_content_filtered":"","post_parent":0,"guid":"https:\/\/www.crs4.it\/people\/cecilia-mascia\/","menu_order":0,"post_type":"people","post_mime_type":"","comment_count":"0","filter":"raw"}]},"yoast_head":"\nEJP RD - CRS4<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.crs4.it\/en\/projects\/ejp-rd\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"EJP RD - 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