Expected outputs include elucidation of genetic, molecular, and cellular pathological mechanisms underlying the studied rare diseases; new insights into the biological functions of causal genes and gene products; and understanding of the structure and regulation of relevant metabolic, regulatory, and signaling pathways. These results will advance knowledge of fundamental developmental and pathophysiological processes in human cells and tissues and help define candidate genes and pathophysiological processes involved in complex diseases.
Additional outputs will include the development of new diagnostic methods, identification of therapeutic targets, and discovery of molecules or biological procedures for further biomedical research or drug development.
The project is therefore expected to generate novel, broadly applicable insights relevant to multiple medical specialties and fundamental biomedical research.
The research teams involved in the proposed program have demonstrable translational potential. Many results have been and will continue to be applied in the form of new clinical procedures, laboratory diagnostics, and potentially commercial applications.
Outputs with commercial potential will be protected by patents or trademarks and licensed to industry partners.
All participating teams are involved in major national research programs:
- EXCELES
- the National Institute for Metabolic and Cardiovascular Disease Research (CarDia, groups of Prof. Kmoch and Prof. Linhart)
- the National Institute for Neurological Research (NEURO, groups of Prof. Jech, Kmoch, and Holada),
- the National Institute for Cancer Research (NUVR, groups of Prof. Kleibl and Assoc. Prof. Jakubek).
These teams have proven record of collaboration, synergies, and impactful publication and application results.
Their future participation in the newly established Biomedical Research Center at Charles University, Albertov Campus, is expected to further strengthen these synergies.