Enhancing PRPF31 expression as a therapeutic strategy for retinitis pigmentosa 11
Public support
Provider
Czech Science Foundation
Programme
Standard projects
Call for proposals
SGA0202600001
Main participants
Ústav molekulární genetiky AV ČR, v. v. i.
Contest type
VS - Public tender
Contract ID
26-21263S
Alternative language
Project name in Czech
Enhancing PRPF31 expression as a therapeutic strategy for retinitis pigmentosa 11
Annotation in Czech
Retinitis pigmentosa (RP) is an incurable, progressive, inherited disease. One form of RP (RP11) is primarily caused by loss-of-function variants in the PRPF31 gene. Interestingly, RP11 shows incomplete penetrance due to elevated expression of the remaining wild-type PRPF31 allele. This suggests that higher PRPF31 protein levels may prevent or slow disease progression and thus represent a therapeutic target. We combine the unique expertise of three research teams to explore the mechanisms involved in the regulation of PRPF31 expression and to test a novel therapeutic approach for RP11. The genomic landscape of RP11 patients will be mapped to identify genetic factors that regulate PRPF31 expression. A high-throughput screen will be used to search for compounds that increase PRPF31 protein levels. In parallel, retinal pigment epithelium and retinal organoid differentiated from patient-derived stem cells will be generated and used to validate the selected compounds. Finally, we will determine how chosen molecules modulate PRPF31 expression to gain further insight into PRPF31 regulation.
Scientific branches
R&D category
ZV - Basic research
OECD FORD - main branch
30103 - Neurosciences (including psychophysiology)
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>)
FH - Neurology, neuro-surgery, nuero-sciences
Solution timeline
Realization period - beginning
Jan 1, 2026
Realization period - end
Dec 31, 2028
Project status
Z - Beginning multi-year project
Latest support payment
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Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP26-GA0-GA-R
Data delivery date
May 6, 2026
Finance
Total approved costs
11,424 thou. CZK
Public financial support
11,375 thou. CZK
Other public sources
49 thou. CZK
Non public and foreign sources
0 thou. CZK