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Projects / Programmes source: ARIS

Slovenian genome project

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B007  Biomedical sciences  Medicine (human and vertebrates) 

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
Keywords
Genome project, genomic medicine, genetic diversity, whole genome sequencing, personalized medicine, prevention
Evaluation (rules)
source: COBISS
Researchers (54)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2019 - 2022  477 
2.  13023  PhD Tadej Battelino  Medical sciences  Researcher  2019 - 2022  1,253 
3.  35553  PhD Sara Bertok  Human reproduction  Researcher  2019 - 2022  86 
4.  32428  Ana Blatnik  Oncology  Technical associate  2019 - 2022  143 
5.  14136  MSc Maja Černilec  Microbiology and immunology  Researcher  2019 - 2022  52 
6.  05236  PhD Vladka Čurin Šerbec  Microbiology and immunology  Researcher  2019 - 2022  264 
7.  15657  PhD Maruša Debeljak  Oncology  Researcher  2019 - 2022  250 
8.  18622  PhD Nataša Debeljak  Biochemistry and molecular biology  Researcher  2019 - 2020  249 
9.  04041  PhD Jurček Dimec  Computer science and informatics  Retired researcher  2019 - 2022  101 
10.  20605  PhD Tadeja Dovč Drnovšek  Biochemistry and molecular biology  Researcher  2019 - 2022  72 
11.  22621  PhD Polonca Ferk  Metabolic and hormonal disorders  Researcher  2019 - 2020  142 
12.  00814  PhD Ksenija Geršak  Human reproduction  Researcher  2019 - 2022  535 
13.  33868  PhD Urh Grošelj  Human reproduction  Researcher  2019 - 2022  486 
14.  21395  PhD Petra Hudler  Medical sciences  Researcher  2019 - 2022  156 
15.  26061  PhD Helena Jaklič  Human reproduction  Researcher  2019 - 2022  37 
16.  18372  PhD Andrej Janež  Metabolic and hormonal disorders  Researcher  2019 - 2022  681 
17.  10972  PhD Janez Jazbec  Oncology  Researcher  2019 - 2022  321 
18.  35356  PhD Barbara Jenko Bizjan  Medical sciences  Researcher  2019 - 2022  76 
19.  32347  PhD Mojca Jensterle Sever  Metabolic and hormonal disorders  Researcher  2019 - 2022  591 
20.  34575  PhD Gašper Klančar  Oncology  Researcher  2019 - 2022  74 
21.  38237  PhD Katarina Kouter  Biochemistry and molecular biology  Junior researcher  2019 - 2020  86 
22.  32181  PhD Jernej Kovač  Medical sciences  Researcher  2019 - 2022  211 
23.  37493  PhD Urša Kovač  Metabolic and hormonal disorders  Junior researcher  2019 - 2020  25 
24.  30697  PhD Anja Kovanda  Neurobiology  Researcher  2019 - 2022  77 
25.  27594  PhD Mateja Krajc  Medical sciences  Researcher  2019 - 2022  383 
26.  51963  PhD Aleša Kristan  Biochemistry and molecular biology  Junior researcher  2019 - 2020  47 
27.  15355  PhD Branimir Leskošek  Public health (occupational safety)  Researcher  2019 - 2022  182 
28.  23434  PhD Luca Lovrečić  Human reproduction  Researcher  2019 - 2022  168 
29.  34579  PhD Aleš Maver  Human reproduction  Researcher  2019 - 2022  212 
30.  29085  PhD Sendi Montanič  Microbiology and immunology  Researcher  2020 - 2022 
31.  39409  Nejc Nadižar    Technical associate  2019 - 2020  30 
32.  52371  Petra Nassib  Biochemistry and molecular biology  Technical associate  2019 - 2020  16 
33.  08007  PhD Srdjan Novaković  Oncology  Researcher  2019 - 2022  499 
34.  39125  MSc Miha Oražem  Medical sciences  Researcher  2020 - 2022  85 
35.  53979  Simona Petač    Technical associate  2019 - 2022 
36.  10458  PhD Borut Peterlin  Human reproduction  Head  2019 - 2022  863 
37.  36486  PhD Pia Pužar Dominkuš  Biochemistry and molecular biology  Junior researcher  2019 - 2020  42 
38.  20345  PhD Uroš Rajčević  Oncology  Researcher  2019 - 2020  118 
39.  50630  PhD Rok Razpotnik  Biochemistry and molecular biology  Junior researcher  2019 - 2020  23 
40.  31306  Žiga Iztok Remec  Human reproduction  Technical associate  2019 - 2022  43 
41.  22459  PhD Tadeja Režen  Neurobiology  Researcher  2019 - 2022  246 
42.  34353  PhD Marija Rogar  Biochemistry and molecular biology  Researcher  2022  25 
43.  06013  PhD Damjana Rozman  Biochemistry and molecular biology  Researcher  2019 - 2022  896 
44.  23343  PhD Vida Stegel  Oncology  Researcher  2019 - 2022  118 
45.  51870  Vita Šetrajčič Dragoš  Oncology  Researcher  2019 - 2022  59 
46.  28388  PhD Petra Škerl  Medical sciences  Researcher  2019 - 2022  95 
47.  37426  PhD Robert Šket  Human reproduction  Researcher  2019 - 2022  73 
48.  50622  PhD Urša Šuštar  Metabolic and hormonal disorders  Junior researcher  2019 - 2022  31 
49.  37490  PhD Tine Tesovnik  Human reproduction  Researcher  2019 - 2022  66 
50.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2019 - 2022  408 
51.  10453  PhD Blanka Vidan-Jeras  Microbiology and immunology  Researcher  2019 - 2022  136 
52.  27742  PhD Alja Videtič Paska  Medical sciences  Researcher  2019 - 2022  222 
53.  20257  PhD Karin Writzl  Human reproduction  Researcher  2019 - 2022  220 
54.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2019 - 2022  318 
Organisations (4)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,892 
2.  0302  Institute of Oncology Ljubljana  Ljubljana  5055733000  15,816 
3.  0311  Blood Transfusion Centre of Slovenia  Ljubljana  5053960  1,759 
4.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,701 
Abstract
The main goal of the Slovenian Genome Project (SGP) is to improve the diagnosis and prevention of rare diseases through the implementation of genome sequencing and to lay the foundation for a personalized genome approach to predicting, preventing and improving the treatment of common multifactorial and cancer diseases. We have designed an innovative approach that will systematically analyze the best practices of the best international national genomic initiatives and upgrade them with innovative, tailor-made solutions for Slovenian health and research environments. To this end, we will develop a network of key health and scientific institutions and include Slovene infrastructure technology centers, health and scientific policy makers (Ministry of Health and Ministry of Education, Science and Sport), lawyers and experts for medical ethics and patient representatives. Representatives of key stakeholders will be associated with corresponding working group that will formulate the content and time design of the Slovenian genomic project. Within the framework of the SGP, we will combine the key activities needed for success of this complex project: We will develop an innovative bioinformatics platform, in which we will include genomic data from the Slovenian population. This platform will originally offer an anonymized approach to the Slovenian professional and research public, and at the same time it will be the central Slovenian genomic node, which will allow connections with international initiatives and partners. Because there is no legal regulation in the field of genomic medicine in Slovenia and there are no specific ethical policies and documents, we will prepare two strategic documents - a document dealing with ethical aspects and a document addressing legal issues in the field of genomic medicine. We will reach this goal in cooperation with domestic and foreign experts in the legal and ethical field. The documents will address individual privacy issues, the exchange of genomic data, the reporting of secondary findings and these deliveries will ensure harmonization of the objectives of the SGP with Slovenian legislation. The efficient and responsible transfer of new technologies to medicine requires the appropriate knowledge of health personnel and awareness of the general population - potential users of new technologies and diagnostic options. Therefore, we will prepare multimedia educational content to improve the awareness of the lay public about the impact of genomics on health and science. We will also prepare separate materials for educating health professionals in order to enable the efficient and responsible transfer of new genomic technologies into clinical practice. We will inform healthcare professionals and the lay public about the progress of the SGP and invite them to actively discuss the project with the organization of the "National genome day". New genomic data of the Slovenian population will be generated through a pilot project in which we will sequence the entire genome of 300 people with rare and cancerous diseases and healthy subjects. In the framework of the pilot project, we will evaluate the additional clinical diagnostic value of the entire genome sequencing in patients with rare diseases in which the current genetic diagnostics was unsuccessful. In accordance with our previous work through which we have already discovered 7 novel genes related to human diseases, and thus contributed to the understanding of mechanisms of human disease, we expect that by systematically using the sequencing of the entire genome, we will have the opportunity to discover new scientific discoveries. We will also obtain data on normal genomic variability in the Slovene population, thus setting the basis for a polygenic risk assessment approach that we can use for various multifactorial human diseases. In the framework of the pilot project, we will also analyze the entire genome of selected tumor tissue samples, thereby
Significance for science
The project is anticipated to have a widespread impact in human medicine and research.  Understanding the population variability is essential in discrimation of pathogenic versus benign genetic variants in diagnosis of patients with rare genetic diseases. Thus, establishment of a genome-wide reference set of population variability is essential in enabling whole genome sequencing as a diagnostic tool in patients.  Along the same lines, this knowledge consequently also improves identification of novel disease genes and mechanisms.
Significance for the country
We anticipate several beneficial economic effects of this project.  Firstly, we expect that this project will lead to improved efficiency of the national health system, particularly due to improved diagnosis of patients with rare genetic conditions, better understanding of pathogenic variability in Slovenia and through novel possibilities of disease prediction and prevention (for example with preconception genetic testing).  Clinical Institute of Medical genetics is for several years the key provider of genomic testing for regional and European national health systems, private institutions and individuals with rare diseases. More than 10% of total income of the institute present international diagnostic services. We expect that the SGP will contribute to increased competitiveness of project partners. Genetic diagnosis is crucial for personalized prevention of disease and development of novel gene therapies. We expect that better understanding of pathological and normal genomic variation might contribute to the development of novel medical products.
Most important scientific results Annual report 2020
Most important socioeconomically and culturally relevant results
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