Modeling Retinitis Pigmentosa using patient-derived human iPSC organoids

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Grant Award Details

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Human Stem Cell Use:
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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.


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.