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Projects / Programmes source: ARIS

Gynecology and Reproduction: Genomics for personalized medicine

Periods
Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   
3.08.00  Medical sciences  Public health (occupational safety)   

Code Science Field
B000  Biomedical sciences   

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
3.03  Medical and Health Sciences  Health sciences 
Keywords
Male infertility, congenital anomalies, genetic diseases, genomic screening, preconceptional screening, prenatal screening, prevention, endometrial receptivity, PCOS, uterine fibroids, whole exome sequencing, transcriptomics
Evaluation (rules)
source: COBISS
Points
9,113.13
A''
453.42
A'
2,482.61
A1/2
5,465.22
CI10
14,313
CImax
281
h10
55
A1
29.94
A3
2.36
Data for the last 5 years (citations for the last 10 years) on June 15, 2024; A3 for period 2018-2022
Data for ARIS tenders ( 04.04.2019 – Programme tender , archive )
Database Linked records Citations Pure citations Average pure citations
WoS  977  15,366  14,225  14.56 
Scopus  956  18,357  17,015  17.8 
Researchers (54)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  53392  PhD Ivana Babić Božović  Human reproduction  Researcher  2020 - 2024  61 
2.  21364  PhD Helena Ban Frangež  Human reproduction  Researcher  2020 - 2024  196 
3.  13314  PhD Matija Barbič  Human reproduction  Researcher  2020 - 2024  170 
4.  28897  Tamara Bertoncelj    Technical associate  2020 - 2024 
5.  30421  PhD Mija Blaganje  Human reproduction  Researcher  2020 - 2024  208 
6.  57285  Juro Božić    Researcher  2022 - 2023 
7.  33343  PhD Tanja Burnik Papler  Human reproduction  Researcher  2020  54 
8.  28348  PhD Ines Cilenšek  Cardiovascular system  Researcher  2020 - 2024  44 
9.  20134  PhD Mojca Čižek Sajko  Human reproduction  Researcher  2021 - 2024  107 
10.  32965  PhD Kristina Drusany Starič  Human reproduction  Researcher  2020 - 2024  96 
11.  32106  PhD Barbara Golob  Human reproduction  Researcher  2020 - 2024  19 
12.  38272  PhD Keli Hočevar  Human reproduction  Junior researcher  2020 - 2023  19 
13.  36869  PhD Alenka Hodžić  Human reproduction  Researcher  2020  41 
14.  26061  PhD Helena Jaklič  Human reproduction  Researcher  2020 - 2024  37 
15.  36940  Anita Jančar    Technical associate  2020 - 2023 
16.  25612  PhD Nina Jančar  Human reproduction  Researcher  2020 - 2024  131 
17.  21352  PhD Peter Juvan  Human reproduction  Researcher  2020 - 2024  163 
18.  52442  PhD Nataša Kenda Šuster  Human reproduction  Researcher  2020 - 2024  35 
19.  37651  Esada Kerić    Technical associate  2020 - 2024 
20.  06970  PhD Borut Kobal  Human reproduction  Researcher  2020 - 2024  420 
21.  22303  PhD Sara Korošec  Human reproduction  Researcher  2020 - 2024  138 
22.  50624  PhD Urška Kotnik  Human reproduction  Junior researcher  2020 - 2024  21 
23.  30697  PhD Anja Kovanda  Neurobiology  Researcher  2020 - 2024  76 
24.  54142  Miha Krkovič    Technical associate  2020 - 2024 
25.  56465  Maja Lončar  Human reproduction  Researcher  2022 - 2024 
26.  23434  PhD Luca Lovrečić  Human reproduction  Researcher  2020 - 2024  168 
27.  06171  PhD Adolf Lukanovič  Human reproduction  Researcher  2020 - 2024  781 
28.  34579  PhD Aleš Maver  Human reproduction  Researcher  2020 - 2024  210 
29.  13515  PhD Leon Meglič  Human reproduction  Researcher  2020 - 2024  151 
30.  17644  Jožica Mivšek    Technical associate  2020 - 2024  65 
31.  31217  Iryna Nikolayeva    Technical associate  2020 - 2024 
32.  23818  PhD Tadej Pajič  Human reproduction  Researcher  2020 - 2024  184 
33.  53979  Simona Petač    Technical associate  2020 - 2024 
34.  56818  Bojana Petek  Human reproduction  Researcher  2022 - 2024 
35.  53254  Ana Marija Peterlin  Cardiovascular system  Researcher  2020 - 2024  24 
36.  10458  PhD Borut Peterlin  Human reproduction  Head  2020 - 2024  860 
37.  11252  PhD Danijel Petrovič  Cardiovascular system  Researcher  2020 - 2024  315 
38.  55831  Rebeka Podgrajšek  Human reproduction  Junior researcher  2021 - 2024  10 
39.  15416  PhD Barbara Požlep  Human reproduction  Researcher  2020 - 2024  72 
40.  28621  Bernarda Prosenc  Human reproduction  Technical associate  2020 - 2024 
41.  22501  PhD Mihael Rogač  Human reproduction  Researcher  2020 - 2024  50 
42.  21362  PhD Špela Smrkolj  Human reproduction  Researcher  2020 - 2024  304 
43.  23076  Andrej Stegnar    Technical associate  2020 - 2024 
44.  33917  PhD Martin Štimpfel  Human reproduction  Researcher  2020 - 2024  87 
45.  15149  PhD Nataša Teran  Human reproduction  Researcher  2020 - 2024  97 
46.  55834  Maja Tomič  Human reproduction  Junior researcher  2021 - 2024 
47.  34402  PhD Nuša Trošt  Human reproduction  Researcher  2020 - 2024  10 
48.  56919  Aleksander Turk  Human reproduction  Junior researcher  2022 - 2024 
49.  32009  PhD Tanja Višnjar  Human reproduction  Researcher  2020 - 2024  45 
50.  55836  Nina Vodnjov  Human reproduction  Junior researcher  2021 - 2024 
51.  12177  PhD Eda Vrtačnik-Bokal  Human reproduction  Researcher  2020 - 2024  597 
52.  20257  PhD Karin Writzl  Human reproduction  Researcher  2020 - 2024  220 
53.  53977  Ana Nyasha Zimani  Human reproduction  Technical associate  2020 - 2024  11 
54.  33507  PhD Vida Živec  Human reproduction  Researcher  2020 - 2024  17 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,764 
2.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,543 
Abstract
The field of gynaecology and reproduction offer enormous opportunity for personalized medicine implementation. The topic of the proposed research programme is focused on major health issues in this area. Subfertility affects 10-12% of reproductive-aged couples worldwide. About 6% of total births worldwide are born with a serious congenital disorder while up to 70% of congenital disorders could either be prevented or affected children could otherwise be offered care that could be life-saving or reduce the severity of the disability. On the other hand, urinary incontinence in women has an estimated prevalence of 30% and significantly affects healthy ageing and is increasing in prevalence.  In up to 40% of subfertile men, no etiologic diagnosis can be made. Therefore, we plan to comprehensively estimate the contribution of genetic factors in male infertility by the combination of molecular karyotyping, whole exome sequencing (WES) and global gene expression analysis in testis. While several genetic, maternal and environmental factors are known to cause congenital anomalies, approximately 50% of all congenital anomalies cannot be linked to a specific cause. We will use WES to comprehensively estimate the contribution of known developmental genes and to identify potential new ones as causative in congenital anomalies. Furthermore, we will systematically analyse human genetic diseases in terms of severity and childhood occurrence to design gene panels which could be used for preconceptional (recessive genetic diseases) and prenatal (recessive and dominant) genomic screening and consequently primary prevention of genetic diseases. Several factors, including those related to the blastocyst and endometrial receptivity, are contributing to the success of the ART procedures. We, therefore, plan to use WES, global gene expression analysis (transcriptomics)  to identify potential biomarkers, important for prioritisation of embryos - suitable for transfer in ART procedures. Additionally, we plan to identify specific gene expression signatures specific for endometrium in women with PCOS and increased weight as well as in women with uterine fibroids.  Genetic contribution to urinary incontinence in women is still largely unknown. The objective of this part of the program is to evaluate the rate of familial occurrence/clustering of urinary incontinence and to identify genes involved in genetic predisposition in familial cases with whole exome sequencing (WES). In conclusion, we will employ novel genomic technologies to contribute original data in terms of genetic aetiology and biomarkers in several most prominent health challenges in the area of gynaecology and reproduction. Consequently, we will contribute to the development of personalized medicine in the field.
Significance for science
We will contribute original data on the impact of genetic factors in several pathologies related to reproduction and gynecology: - the role of copy number variants (CNVs) and gene mutations in male infertility will be investigated. Findings have potential implication for understanding of male infertility etiology and routine management of subfertile men in the clinic, - potential novel gene candidates and mechanisms involved in male infertility will identified global analysis of gene expression - we will contribute original, comprehensive evaluation of genetic mutations and potentially identify new genes and mechanisms associated with congenital anomalies. Results will be directly usable in routine diagnosis and prevention of congenital anomalies  - we will design original panel of genes which could be used for preconceptional and prenatal genomic screening. Both panels will the basis to provide personalized medicine solution to couples in terms of prevention of severe prenatal, neonatal and childhood disorders. - we will contribute to identification of potential transcriptomic biomarkers which could be used for embryo prioritisation in ART procedures. If biomarker would demonstrate sufficient predictive power, it could be used by itself or in combination with other predictors for improvement of ART procedures.  - we will investigate the potential of transcriptomic biomarkers for endometrial receptivity in PCOS/obesity and in uterine fibroids. If biomarker would demonstrate sufficient predictive power, it could be used by itself or in combination with other predictors for improvement of ART procedures. - we will evaluate the contribution of family history as risk factor for urine incontinence in women and identify potential genes and mechanisms involved in the pathogenesis. Results could potential serve in clinical setting to identify a subgroup of women with high genetic risk for urine incontinence.
Significance for the country
We will develop genomic tools for personalised medicine in the area of reproduction and gynecology. While some of the results have potential to be offered in the context of routine diagnostic genetic services, others (i.e. genomic screenings) could be used commercially on the basis of participatory medicine. The program has the potential to contribute to both, improved public health services and to genomic tests which could be used on the basis of commercial participatory personalized medicine.
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