Modeling Retinitis Pigmentosa using patient-derived human iPSC organoids
Grant Award Details
Grant Type:
Grant Number:
DISC0-14449
Investigator(s):
Disease Focus:
Human Stem Cell Use:
Cell Line Generation:
Award Value:
$1,380,543
Status:
Active
Grant Application Details
Application Title:
Modeling Retinitis Pigmentosa using patient-derived human iPSC organoids
Public Abstract:
Research Objective
The objective of this proposal is to develop a human retinal organoid model of adRP to gain insights in pathogenesis and assess clinically relevant approaches to restore RHO protein function.
Impact
Upon successful completion of this study, we will have established a disease-in-a-dish model and a novel therapeutic approach towards management of the devastating outcomes in RHO-associated adRP
Major Proposed Activities
The objective of this proposal is to develop a human retinal organoid model of adRP to gain insights in pathogenesis and assess clinically relevant approaches to restore RHO protein function.
Impact
Upon successful completion of this study, we will have established a disease-in-a-dish model and a novel therapeutic approach towards management of the devastating outcomes in RHO-associated adRP
Major Proposed Activities
- Recruitment of additional patients with RHO adRP due to CNV and P23H
- Generation of additional iPSCs with adRP due to RHO mutations
- Characterization of rod photoreceptor dysgenesis in RHO mutations
- Studies into disease mechanism due to RHO mutations
- Evaluation of small molecule NR2E3 inhibitor to restore phenotype
- Evaluation of Anti-sense oligonucleotides as a strategy to restore phenotype
Statement of Benefit to California:
Retinitis Pigmentosa (RP) lead to devastating visual impairment in millions of individuals in the US and in the state of California. Most individuals are legally blind by age 40. Thus, this results in a tremendous stress in the state of CA's resources. In addition, these disorders result in both a monetary and psychological stress on the family esp. since the disorder often runs in families. Using patient's stem cells, we aim to better understand the disorder and identify new therapies.
