Modelling early onset and congenital retinal disease using iPSC v1.0
Research type
Research Study
Full title
In vitro modelling of early onset and congenital retinal degeneration by derivation and differentiation of human induced pluripotent stem cells.
IRAS ID
204280
Contact name
J Bainbridge
Contact email
Sponsor organisation
Moorfields Eye Hospital NHS Foundation Trust, Research and Development Office
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Retinal degeneration is a common cause of blindness worldwide with a significant socioeconomic impact. The purpose of this study is to explore the feasibility of a new technique to model early onset or congenital retinal degeneration in the laboratory.
of affected individuals in the laboratory could help elucidate the disease mechanisms leading to blindness. However, the isolation of retinal photoreceptor cells from patients is not safe and conventional culture methods for these cells are inefficient. In this project we propose to model early onset or congenital retinal dystrophy in the laboratory by generating photoreceptor cells from a tissue sample derived from affected individuals using a new technology involving induced pluripotent stem cells (iPSC). We will harvest human fibroblasts (skin), peripheral blood cells or exfoliated renal epithelial cells present in urine from patients with congenital or early onset retinal degeneration and known gene defects. We will reprogramme these cells into induced pluripotent stem cells (iPSC), which have the capacity to form tissues of any lineage in the body. We will use the patient-derived iPSC to make photoreceptor cells. The photoreceptor cells will be cultured in the laboratory and we will characterise the effect of the gene defects by comparison with cells from normal control individuals. The primary purpose is to test the feasibility of this approach to model early onset or congenital retinal dystrophy and to investigate the causative relationship between specific gene defects and the disease phenotype. We anticipate that a better understanding of how gene defects lead to retinal degeneration may lead to the identification and development of therapeutic interventions to preserve vision and prevent blindness.REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
16/NE/0383
Date of REC Opinion
10 Mar 2017
REC opinion
Further Information Favourable Opinion