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Projects
Rare Diseases:Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects
Research activity
| Code | Science | Field |
|---|---|---|
| B220 | Biomedical sciences | Genetics, cytogenetics |
| B490 | Biomedical sciences | Haematology, extracellular fluids |
| B790 | Biomedical sciences | Clinical genetics |
| H155 | Humanities | Moral science |
| S112 | Social sciences | Human rights |
Keywords
Rare diseases, molecular genetic markers, therapeutic modalities, pharmacogenomics, legislation
Organisations (7) , Researchers (1)
0132 University of Belgrade, Institute of Molecular Genetics and Genetic Engineering
| no. | Code | Name and surname | Research area | Role | Period | No. of publicationsNo. of publications |
|---|---|---|---|---|---|---|
| 1. | 08649 | Haematology, extracellular fluids | Head | 2011 - 2019 | 80 |
0007 University of Belgrade, Faculty of Pharmacy
0017 University of Belgrade, Faculty of Philosophy
0018 University of Belgrade, Faculty of Medicine
0077 University of Belgrade, Institute for Philosophy and Social Theory
0140 Institute of Social Sciences
0150 University of Arts in Belgrade, Faculty of Music
Abstract
Rare diseases (RD) are heterogeneous disorders with poorly understood pathogenesis. There are no reliable diagnostic and therapeutic protocols for RD. Patients remain on the margins of health care systems throughout the world. This project represents a widespread action of highly qualified teams of molecular biologists, medical doctors and researchers from the field of social sciences, focused on selected RD (Crohn’s disease, hematological malignancies, metabolic and monogenic diseases, Perthes’ disease). The project includes fundamental research with the aim of elucidating the molecular pathophysiology of RD. Molecular genetic markers relevant for diagnosis, prognosis and therapy will be studied, as well as genes modulators of inflammation and apoptosis and mitochondrial genes. Applied research will lead to improvement of diagnostic procedures, more precise stratification of patients and modification of therapeutic protocols based on genetic, epigenetic and pharmacogenetic markers. Developmental research will give rise to new diagnostic and prognostic disease-specific chips, guidelines for differential diagnosis and individualized therapy. Biobanks and patient registries will be formed. National plan for RD will be designed. The project will enable networking of researchers from different scientific fields and transfer of knowledge and technology. This will lead to improvement in treatment of patients and integration of Serbian scientists into similar European projects.