Validation of a Concept of Next Generation Sequencing in Improving the Routine Diagnostics of Genetic Diseases
Subproject „Commercialization of Research Outcomes of the 1st Medical Faculty of Charles University and their Implementation into Medical Practice" (PoC III. 1. LF )
Reg. No. CZ.07.1.02/0.0/0.0/17_049/0000828
Project is supported by the European structural and investment funds - Operational programme Prague - Growth Pole of the Czech Republic
Presented part of the project exploits the method of massive parallel sequencing of the new generation (NGS), which enables to perform complex differential diagnostics within one analysis. Our aim is to implement an open multi-layer analytical system which would rapidly decrease financial costs and turn-around-times, and which would accelerate genetic diagnostics including heterogenic and rare diseases. Presented concept includes development of an NGS gene panel dedicated for effective routine differential diagnostics of selected hereditary diseases (OIDIP panel). This panel should reflect the main needs of medical care centers set by the Prague City Hall administration (MHP) or set by some other Prague district administrations (Prague 1, Prague 7).
Help us implement NGS diagnostics into routine medical practice!
Our Project has shifted towards the VALIDATION phase. We have started massive testing of multi-level analysis including established OIDIP panel.
