Present International Projects in the Area of Diagnostics and Therapy of
Cystic Fibrosis: Participation of Specialists from the Czech Republic into the
Problem Solving
Brázová J.1, Macek M. ml.2
Pediatrická klinika UK 2. LF a FN Motol, Praha1 přednosta prof. MUDr. J. Lebl, CSc. Ústav biologie a lékařské genetiky UK 2. LF a FN Motol, Praha2 přednosta prof. MUDr. M. Macek ml., DrSc. |
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Summary:
Cystic fibrosis (CF) is one of the most systematically studied severe and chronic
monogenic disorders. Despite this fact, many pathophysiological mechanisms still
remain to be elucidated in order to assure customised therapeutic strategies. Experts
from all over the world have been investigating this complex disorder in order to
understand its complex pathophysiology. In this regard, high numbers of cases are
necessary for valid clinical studies. Therefore, the current trend in CF research is
focused on international cooperation. Investigators from around the world cooperate
within international projects pertaining to all aspects of CF, i.e. starting from the study
of the basic CFTR gene defect, through all types of CF clinical trials, including analysis
of relevant psychosocial issues. This article summarizes Czech participation in
international projects related to CF.
Key words:
cystic fibrosis, ECORN-CF, EuroCareCF, ECFS, CF Europe, Rapsody,
EuroGentest, CF Thematic Network, Snip2Chip, Micro2DNA
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