Projects / Programmes
Advanced genomic analyses of Slovenian children with Autistic Spectrum Disorders
| Code |
Science |
Field |
Subfield |
| 3.09.00 |
Medical sciences |
Psychiatry |
|
| Code |
Science |
Field |
| B220 |
Biomedical sciences |
Genetics, cytogenetics |
| Code |
Science |
Field |
| 3.02 |
Medical and Health Sciences |
Clinical medicine |
Autistic Spectrum Disorders (ASD), Next Generation Sequencing (NGS), advanced genetic analysis
Researchers (1)
| no. |
Code |
Name and surname |
Research area |
Role |
Period |
No. of publicationsNo. of publications |
| 1. |
30811 |
PhD Danijela Krgović |
Oncology |
Head |
2018 - 2020 |
79 |
Organisations (1)
Abstract
Autistic Spectrum Disorders (ASD) are one of the most complex behavioural disorders. Over the years, the prevalence of this disorder is constantly increasing in the population. ASD are the result of a complex interaction of genes and the environment, with a strong clear genetic effect. In the last few years, visible progress has been made in the field of ADS genetics. Family and twin studies have shown a significant influence on genetic factors on the development of this disorder. Technological breakthroughs in the field of genetics enabled the search for these genetic factors. Thus, today we know that genetic factors which contribute to ASD, their contribution is estimated at more than 50%, include various mutational mechanisms, including rare Single Nucleotide Variants (SNV), Copy Number Variations (CNV), chromosomal changes and Single Nucleotide Polymorphisms (SNP). Although SNVs explain the occurrence of the disorder only in approximately 1% of cases, these rare, inherited or de novo variants with a high penetrance that interfere with the normal expression of a single gene, are crucial to the understanding the aetiology of ASD and in treatment development.
The aims of our study are based on identifying of rare SNVs (mutations) in Slovenian children with idiopathic ASD by using newest technology, Next Generation Sequencing (NGS). In this, we will focus primarily on determining the impact of the analysed mutations on the development of disorder in proband and on the establishment of a genotype-phenotype correlations. The study will also allow us to evaluate the efficiency (diagnostic yield) of the use of the NGS methodology as a diagnostic test for Slovenian children. Furthermore, we will be able to determine the genetic cause for ASD in a significantly larger number of patients, which will significantly contribute to prognoses in the child, reduce secondary behavioural complications, and increase treatment options. Better genetic characterization of the child will consequently also contribute to the welfare of the whole family, in terms of genetic counselling for siblings or planned future pregnancies.
Significance for science
The content of this research is important both for the medical and social development of Slovenia:
Determining the genetic cause of ASD in children who have already been genetically tested, but due to limitations of the methods used, genetic abnormalities could not be determined so far.
Finding the cause of disease means more economical treatment of patients, as we avoid many unnecessary additional investigations.
By defining the genetic cause of a patient's disorder, we will contribute to a better genetic treatment of the child and his family, better predictions of the disease in the child, and the possibility of focusing on targeted treatment (Expert Opin Pharmacother. 2012;13:1615-29).
The introduction of the NGS methodology in the diagnostic of ASD disorders in LMG, UKC MB will help introduce the aforementioned method to other areas, such as the use of the method in the diagnosis of a wider range of neurodevelopmental disorders, tumour genetics, etc.
In anonymous form, the results obtained in this study will be included in the databases of globally leading international consortium which are crucial in the field of genetics of neurodevelopmental disorders (Decipher, ClinVar) and are key in the interpretation and classification of mutations identified by the NGS method in this disorders.
Significance for the country
The content of this research is important both for the medical and social development of Slovenia:
Determining the genetic cause of ASD in children who have already been genetically tested, but due to limitations of the methods used, genetic abnormalities could not be determined so far.
Finding the cause of disease means more economical treatment of patients, as we avoid many unnecessary additional investigations.
By defining the genetic cause of a patient's disorder, we will contribute to a better genetic treatment of the child and his family, better predictions of the disease in the child, and the possibility of focusing on targeted treatment (Expert Opin Pharmacother. 2012;13:1615-29).
The introduction of the NGS methodology in the diagnostic of ASD disorders in LMG, UKC MB will help introduce the aforementioned method to other areas, such as the use of the method in the diagnosis of a wider range of neurodevelopmental disorders, tumour genetics, etc.
In anonymous form, the results obtained in this study will be included in the databases of globally leading international consortium which are crucial in the field of genetics of neurodevelopmental disorders (Decipher, ClinVar) and are key in the interpretation and classification of mutations identified by the NGS method in this disorders.
Most important scientific results
Final report
Most important socioeconomically and culturally relevant results
Final report
