Projects / Programmes
Molecular-genetic basis of chronic disorders in children and adolescents
| Code |
Science |
Field |
Subfield |
| 3.05.00 |
Medical sciences |
Human reproduction |
|
| Code |
Science |
Field |
| B660 |
Biomedical sciences |
Pediatrics |
| B790 |
Biomedical sciences |
Clinical genetics |
| B480 |
Biomedical sciences |
Endocrinology, secreting systems, diabetology |
inborn diseases, genetics, endocrinology, diabetes, child, adolescent
Researchers (13)
Organisations (2)
Abstract
Inborn chronic diseases of infancy, childhood and adolescent period are genetically determined. The knowledge about genetic and molecular basis of the disease is crucial for establishing the precise diagnosis as well as for proper treatment and genetic counselling. The proposed research project aims to reveal genetic basis and genotype - phenotype correlation in the following diseases and syndromes: 1/ Autoimmune polyglandular syndrome type 1 (APS-1), 2/ Thiamine resistant anaemia (TRMA), 3/ Osteogenesis imperfecta, 4/ Barth syndrome, 5/ Nephrogenic diabetes insipidus, 6/ Papillon-Lefevre syndrome. The above listed diseases and syndromes differ considerably in clinical presentation, but have similar aetiology being monogenic diseases. Therefore, the research strategy and methods are common to all of them. In our hypothesis, we expect that despite the low incidence of the researched diseases and syndromes a correlation between genotype and phenotype can be established and thus an important information for the treatment of patient and counselling of their families can be obtained. After detailed clinical evaluation of patients and their families, genomic DNA will be isolated from peripheral leukocytes. Genes connected to specific disorder will be PCR amplified, screened for known mutations and subsequently sequenced. Identified mutations will be compared to the respective phenotype. From the obtained basic knowledge, implications for the treatment and genetic counselling will be drawn.
