Projects / Programmes source: ARRS

Elucidation of genetic epidemiology and mechanisms of congenital anomalies by genomic approaches

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B220  Biomedical sciences  Genetics, cytogenetics 

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
Congenital anomalies, molecular kayotyping, exome sequencing, etiology, epidemiology
Evaluation (rules)
source: COBISS
Researchers (13)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  20078  Barbara Dolničar    Technician  2017 - 2020 
2.  26061  PhD Helena Jaklič  Medical sciences  Researcher  2017 - 2020  33 
3.  23434  PhD Luca Lovrečić  Medical sciences  Researcher  2017 - 2020  153 
4.  34579  PhD Aleš Maver  Medical sciences  Researcher  2017 - 2020  175 
5.  31217  Iryna Nikolayeva    Technician  2017 - 2020 
6.  10458  PhD Borut Peterlin  Medical sciences  Principal Researcher  2017 - 2020  812 
7.  28621  Bernarda Prosenc  Medical sciences  Technician  2017 - 2020 
8.  22501  PhD Mihael Rogač  Medical sciences  Researcher  2017 - 2020  45 
9.  21133  MSc Gorazd Rudolf  Medical sciences  Researcher  2017 - 2020  48 
10.  15149  PhD Nataša Teran  Medical sciences  Researcher  2017 - 2020  94 
11.  26331  Marija Volk  Medical sciences  Researcher  2017 - 2020  83 
12.  32544  Irena Vrečar  Medical sciences  Researcher  2017 
13.  20257  PhD Karin Writzl  Medical sciences  Researcher  2017 - 2020  196 
Organisations (1)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  74,065 
Congenital anomalies present important public health and epidemiologic challenge. The etiology of congenital anomalies remains unexplained in more than 50% of cases, while underlying molecular mechanisms are still largely unknown or based only on animal models.  The European Union project EUROCAT made an important contribution to the understanding of the epidemiology of congenital anomalies. The limitation of data collected in EUROCAT project presents the fact, that genetic data are based on the basic genetic testing tools such as karyotyping and genetic analysis focused on selected genes.  Research has shown that both molecular karyotyping and exome sequencing might play an important role in unveiling of genetic etiology and new mechanisms in congenital anomalies. Nevertheless, these two methods have not been systematically used isolated or in combination on larger population cohorts. In the proposed project we designed an original approach in which we plan to combine EUROCAT registry methodology and biological samples from biobanks with new genetic approaches: molecular karyotyping and exome sequencing.  We plan to select cases of congenital anomalies (monogenic/isolated and complex) from the Slovenian registry of congenital anomalies in collaboration with Croatian registry of congenital anomalies and partner institutions from the EUROCAT network. Biological samples will be accessed from associated biobanks and will be analyzed with use of molecular karyotyping and whole exome sequencing. We will develop original bioinformatics approach to interpret the data in which we will integrate established patterns of embryological development in human, known associations among congenital anomalies and causal genes described in Human Phenotype Ontology data base and recently published transcriptomic data on human morphogenesis.   With the proposed project we will contibute to better understanding of molecular mechanisms and epidemology of congenital anomalies, both isolated and complex.
Significance for science
Congenital anomalies present an important public health challenge. Insights in the mechanisms and genetic etiology of congenital anomalies is limited which is reflected in the low diagnostic yield and possibilities of prevention. Systematic application of two powerful genomic technologies, for the first time in the study of congenital anomalies, will enable us to discover new mechanisms of developmental disorders. Furthermore, the proposed project has an important applicative value since we will be able to demonstrate the extent of improvement of diagnostic yield, and hence contribution to prevention of congenital anomalies.
Significance for the country
Congenital anomalies present an important burden to the society: they affect patients with congenital anomalies, their families as well as the society due to the chronic nature, high level of disability and lack of successful treatment. The goals of the project will contribute directly to better diagnosis and hence prevention of congenital anomalies in Slovenia and worldwide.
Most important scientific results Interim report, final report
Most important socioeconomically and culturally relevant results Final report
Views history