Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
Public support
Provider
Ministry of Education, Youth and Sports
Programme
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Call for proposals
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Main participants
Univerzita Karlova / 1. lékařská fakulta
Contest type
M2 - International cooperation
Contract ID
MSMT-21745/2020
Alternative language
Project name in Czech
Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
Annotation in Czech
i) to dissect the regulation of inherited retinal diseases (IRD) genes in human retina to improve functional genome annotation. ii) to revisit clinical diagnoses and generate relevant cellular models derived from unsolved monoallelic cases with suspected recessive IRD. iii) to integrate genomics, transcriptomics and epigenomics performed on these cells to accelerate diagnosis in unsolved IRD. iv) to unravel novel regulatory mechanisms underlying dominant IRD in human cellular and animal models. v) to transfer research findings to the clini
Scientific branches
R&D category
ZV - Basic research
OECD FORD - main branch
30502 - Other medical science
OECD FORD - secondary branch
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OECD FORD - another secondary branch
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CEP - equivalent branches <br>(according to the <a href="http://www.vyzkum.cz/storage/att/E6EF7938F0E854BAE520AC119FB22E8D/Prevodnik_oboru_Frascati.pdf">converter</a>)
FP - Other medical fields
Completed project evaluation
Provider evaluation
V - Vynikající výsledky projektu (s mezinárodním významem atd.)
Project results evaluation
The project led to the discovery of a number of non-coding pathogenic variants and underlying mechanisms of selected retinal dystrophies. We have confirmed the existence of MIR204-associated disease chorioretinal dystrophy variably associated with coloboma, cataracts and glaucoma.
Solution timeline
Realization period - beginning
Jan 1, 2020
Realization period - end
Dec 31, 2022
Project status
U - Finished project
Latest support payment
May 19, 2022
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP23-MSM-8F-U
Data delivery date
Jun 30, 2023
Finance
Total approved costs
6,162 thou. CZK
Public financial support
3,444 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK