Molecular diagnosis of Bartter and Gitelman syndrome
Public support
Provider
Ministry of Health
Programme
Branch programm of research of the Ministry of Health
Call for proposals
VaV pro Ministerstvo zdravotnictví 1 (SMZ02004NR)
Main participants
—
Contest type
VS - Public tender
Contract ID
—
Alternative language
Project name in Czech
Molekulární diagnostika Bartterova a Gitelmanova syndromu
Annotation in Czech
Cílem projektu je určit frekvence výskytu Bartterova a Gitelmanova syndromu, jejich genových mutací v ČR a jejich včasná diagnostika, případně přispět k pochopení patogeneze monogenní formy arteriální hypertenze.
Scientific branches
R&D category
NV - Nonindustrial research (Applied research excluded Industrial research)
CEP classification - main branch
EB - Genetics and molecular biology
CEP - secondary branch
—
CEP - another secondary branch
—
OECD FORD - equivalent branches <br>(according to the <a href="http://www.vyzkum.cz/storage/att/E6EF7938F0E854BAE520AC119FB22E8D/Prevodnik_oboru_Frascati.pdf">converter</a>)
10603 - Genetics and heredity (medical genetics to be 3)<br>10604 - Reproductive biology (medical aspects to be 3)<br>10605 - Developmental biology<br>10608 - Biochemistry and molecular biology<br>10609 - Biochemical research methods<br>30101 - Human genetics
Completed project evaluation
Provider evaluation
V - Vynikající výsledky projektu (s mezinárodním významem atd.)
Project results evaluation
The molecular genetic analysis of Bartter's and Gilteman's syndrome was established in patients with suspicion for these deseases. 3 novel mutations on CLCNKB (candidate gene for Bartter's syndrome) and 4 novel mutations on SLC12A3 gene (Gilteman's s.).
Solution timeline
Realization period - beginning
Jan 1, 2004
Realization period - end
Jan 1, 2006
Project status
U - Finished project
Latest support payment
—
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP07-MZ0-NR-U/06:2
Data delivery date
Aug 8, 2007
Finance
Total approved costs
2,564 thou. CZK
Public financial support
2,556 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK