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Projects / Programmes source: ARIS

Identification of new disease mechanisms with next generation sequencing

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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
Next-generation sequencing, exome sequencing, monogenic (Mendelian) syndromes, multifactorial diseases
Evaluation (rules)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Researchers (15)
no. Code Name and surname Research area Role Period No. of publications
1.  20078  Barbara Dolničar    Technical associate  2013 - 2016  4 
2.  00814  PhD Ksenija Geršak  Human reproduction  Researcher  2013 - 2016  530 
3.  26061  PhD Helena Jaklič  Human reproduction  Researcher  2013 - 2016  37 
4.  37651  Esada Kerić    Technical associate  2015 - 2016  0 
5.  34579  PhD Aleš Maver  Human reproduction  Junior researcher  2013 - 2016  201 
6.  31217  Iryna Nikolayeva    Technical associate  2013 - 2016  0 
7.  10458  PhD Borut Peterlin  Human reproduction  Head  2013 - 2016  847 
8.  28621  Bernarda Prosenc  Human reproduction  Technical associate  2013 - 2016  0 
9.  21133  MSc Gorazd Rudolf  Human reproduction  Researcher  2013 - 2016  51 
10.  23076  Andrej Stegnar    Technical associate  2013 - 2016  0 
11.  15149  PhD Nataša Teran  Human reproduction  Researcher  2013 - 2016  97 
12.  12245  Alenka Veble  Human reproduction  Researcher  2013 - 2016  71 
13.  26331  Marija Volk  Human reproduction  Researcher  2013 - 2016  87 
14.  32544  Irena Vrečar  Public health (occupational safety)  Researcher  2013 - 2016  9 
15.  20257  PhD Karin Writzl  Human reproduction  Researcher  2013 - 2016  210 
Organisations (1)
no. Code Research organisation City Registration number No. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,422 
Abstract
Methods of next generation sequencing (NGS) provide the possibility of sequencing complete human exome and genome at accessible cost. These methods offer the opportunity to discover genes for monogenic diseases, even when the number of affected individuals in a family is small, and only a single affected individual might be sufficient to find the causative variant. In multifactorial diseases, NGS methods have potential to detect very rare but highly penetrant genetic variants, especially in familial forms of such diseases. Two main current challenges in application of NGS include: 1) to identify individuals and families with monogenic diseases, where genetic etiology is not yet known, or to identify families with common chronic diseases, where causative mutations reside in one or more newly discovered genes; and 2) to improve methods of interpretation of exome/genome analysis for identification of pathogenic mutation among the multitude of genetic variants detected by exome/genome sequencing. During our clinical an research activities performed at the Clinical institute of medical genetics UKCL, we have already identified a new syndrome multiple sclerosis/malignant melanoma, a familial form of premature ovarian failure with signs of masculinization, two cases of premature aging with unknown genetic etiology and some other very rare, etiologically unexplained syndromes as well as rare familial cases of multiple sclerosis, where understanding of etiology is still very limited. The aim of the proposed project is therefore to analyze exomes of already ascertained patients with rare syndromes and familial form of multiple sclerosis and to identify new genes and pathological mechanisms for multiple sclerosis, malignant melanoma, premature ovarian failure, premature aging and other rare syndromes that we have already identified, as well for the diseases to be still collected during the project. Additionally, we aim to develop bioinformatic approaches for efficient identification of pathogenic variants in exome/genome analyses with integration of BITOLA tool and integratomic approach into the pathogenic variant discovery.
Significance for science
We developed new bioinformatic tools for interpratation of exome sequencing results and web-based application Phenotype Generator Panel (http://www.kimg.eu/generator/). We managed to identify 4 new genes for 3 human disorders: the progeroid syndrome Fontaine Petty, epilepsies and multiple sclerosis and consequently discovered new pathological mechanisms of mentioned diseases. New mechanisms provide potential for development of new therapeutic approaches.
Significance for the country
Development of new diagnostic appraches for diagnosis of genetic diseases and its implementation in the national health care system has significantly contributed to the access of Slovene patients with rare diseases to rapid diagnosis. This is line with the Slovene national plan for rare diseases. Additionally the project contributed to the competitiveness of the Slovene health sector as the Clinical Institute of Human Genetics developed as one of the major providers of exome sequencing in the region.
Most important scientific results Annual report 2013, 2014, 2015, final report
Most important socioeconomically and culturally relevant results Annual report 2013, 2014, 2015, final report
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