Periodic Reporting for period 2 - PharmGenHUB (Pharmacogenomics Hub in a strengthened IMGGE)
Reporting period: 2023-10-01 to 2025-06-30
Personalized medicine uses pharmacogenomics (PGX) to individualize therapy upon patients’ unique DNA profiles. With ~200,000 deaths/year in Europe due to adverse drug reactions, it has become an imperative to improve treatment. In Western Balkans (WB), individualization of therapy is done sporadically. IMGGE (Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia) is a pioneer in the PGX in WB. PharmGenHUB will strengthen IMGGE’s PGX R&I potential by exchanging knowledge between IMGGE and EU partnering institutions: University of Patras, Greece (UPAT), University of Ljubljana, Slovenia (UL), University of Trieste, Italy (UNITS). Through collaboration and knowledge sharing with 3 EU partners, IMGGE will become WB central place for PGX diagnostics and R&I, education and trainings, and translation of PGX knowledge into clinically applicable digital solutions. IMGGE’s research project, high-throughput DNA sequencing of WB populations, with support of UPAT and UL, will identify WB specific drug-PGX marker pairs and enable design of electronic tool for better decision-making in clinical practice, electronic PGX assistant for WB (ePGA-WB). iPSC model for validation of novel PGX markers relevant for Europe will be introduced at IMGGE with support of UNITS. IMGGE will renew, reinforce and establish new connections through networking with WB institutions. Project will be realized through short-term visits of IMGGE staff to EU partner institutions, staff exchanges, on-site trainings, experimental laboratory work. Outreach activities will include PGX days, WB conference and joint summer schools. To strengthen research management capacities and administrative skills of IMGGE staff, a research management unit will be established with assistance from UPAT. As focal point of PGX translational research, IMGGE will impact on WB health-care cost benefits and facilitate WB integration to EU-PGX research area through R&I activities and digitalization.
In order to accomplish the main objectives of PharmGenHUB project, work planned in the tasks defined in the WPs is performed as follows:
1. Bioinformatics on-site training of the IMGGE staff at UPAT as well as advanced statistics on-site training at UL have been carried out.
2. The original bioinformatics tool for WGS analysis leading to the pipeline for pharmacogenomics analysis, has been designed and tested.
3. PGx tests are routinely performed at IMGGE, both using PCR and NGS technology. Transfer of knowledge of genetic PGx testing to WB institutions has started, but still a lot of testing for patients from WB countries is performed at IMGGE.
4. Activities aimed at acquiring knowledge for the application of the iPS cell model system in personalized pharmacogenomics research were successfully completed.
5. iPSC facility has been established at IMGGE and first iPSC line has been generated.
6. Partnerships with institutions in the Western Balkans have been consolidated, strengthened, and reinforced.
7. Whole Genome Sequencing of the 250 samples have been completed. Bioinformatics analysis is finished.
8. Three scientific papers have been published and more research papers, as a result of PharmGenHUB project have been in preparation.
9. IMGGE and its PGx team became an attractive partner for EU collaborative projects.
10. IMGGE and its PGx team became a trustful leader of the projects in the field of PGx which are of special interest of pharmaceutical companies.
1. Bioinformatics on-site training of the IMGGE staff at UPAT as well as advanced statistics on-site training at UL have been carried out.
2. The original bioinformatics tool for WGS analysis leading to the pipeline for pharmacogenomics analysis, has been designed and tested.
3. PGx tests are routinely performed at IMGGE, both using PCR and NGS technology. Transfer of knowledge of genetic PGx testing to WB institutions has started, but still a lot of testing for patients from WB countries is performed at IMGGE.
4. Activities aimed at acquiring knowledge for the application of the iPS cell model system in personalized pharmacogenomics research were successfully completed.
5. iPSC facility has been established at IMGGE and first iPSC line has been generated.
6. Partnerships with institutions in the Western Balkans have been consolidated, strengthened, and reinforced.
7. Whole Genome Sequencing of the 250 samples have been completed. Bioinformatics analysis is finished.
8. Three scientific papers have been published and more research papers, as a result of PharmGenHUB project have been in preparation.
9. IMGGE and its PGx team became an attractive partner for EU collaborative projects.
10. IMGGE and its PGx team became a trustful leader of the projects in the field of PGx which are of special interest of pharmaceutical companies.
Several achievements beyond DoA are worth to be emphasized:
1. The most critical part of the realization of the Project was the non-existence of publicly available bioinformatics pipeline for the analysis of WGS raw data. The original tool for WGS analysis has been designed by PharmGenHUB team. This expertise will enable future research using the most valuable methodology. Also, it will be used as diagnostic tool required in health care system in Serbia.
2. Translation of iPSC technology from UNITS to IMGGE has been enabled through the establishment of new iPSC facility in IMGGE. This is one of the main achievements of the PharmGenHUB project because PharmGenHUB supported the introduction of this up-to-date methodology for advanced and innovative research in many scientific fields, including pharmacogenomics.
3. Several new pharmacogenomics studies have been initiated by PharmGenHUB project. Three papers have been published, two more prepared to be submitted and several more studies (related to data on PGx markers in WB populations) are ongoing.
4. IMGGE and its PGx team became an attractive partner for EU collaborative projects. One new EU project is ongoing, and several are in the preparation phase.
5. IMGGE and its PGx team became a trustful leader of the projects in the field of PGx which are of special interest to pharmaceutical companies. Two investigator-initiated studies focused on pharmacogenomics were approved and financially supported by Takeda Pharmaceuticals and Novartis AG. New research projects are planned to be supported by pharmaceutical companies.
6. Partnerships with EU partner institutions and the institutions from the Western Balkans have been consolidated, strengthened, and reinforced, and PharmGenHUB consortium will continue with research and educational activities, as well as the activities valuable for the health care sector of WB countries.
7. The Research Management Unit (RMU), established during PharmGenHUB, remains a valuable support service at IMGGE.
8. Pharmacoeconomics studies, initiated in the PharmGenHUB project, will contribute to the Project impact on health care system and society as well.
1. The most critical part of the realization of the Project was the non-existence of publicly available bioinformatics pipeline for the analysis of WGS raw data. The original tool for WGS analysis has been designed by PharmGenHUB team. This expertise will enable future research using the most valuable methodology. Also, it will be used as diagnostic tool required in health care system in Serbia.
2. Translation of iPSC technology from UNITS to IMGGE has been enabled through the establishment of new iPSC facility in IMGGE. This is one of the main achievements of the PharmGenHUB project because PharmGenHUB supported the introduction of this up-to-date methodology for advanced and innovative research in many scientific fields, including pharmacogenomics.
3. Several new pharmacogenomics studies have been initiated by PharmGenHUB project. Three papers have been published, two more prepared to be submitted and several more studies (related to data on PGx markers in WB populations) are ongoing.
4. IMGGE and its PGx team became an attractive partner for EU collaborative projects. One new EU project is ongoing, and several are in the preparation phase.
5. IMGGE and its PGx team became a trustful leader of the projects in the field of PGx which are of special interest to pharmaceutical companies. Two investigator-initiated studies focused on pharmacogenomics were approved and financially supported by Takeda Pharmaceuticals and Novartis AG. New research projects are planned to be supported by pharmaceutical companies.
6. Partnerships with EU partner institutions and the institutions from the Western Balkans have been consolidated, strengthened, and reinforced, and PharmGenHUB consortium will continue with research and educational activities, as well as the activities valuable for the health care sector of WB countries.
7. The Research Management Unit (RMU), established during PharmGenHUB, remains a valuable support service at IMGGE.
8. Pharmacoeconomics studies, initiated in the PharmGenHUB project, will contribute to the Project impact on health care system and society as well.