A5072281325- Retinal Development and Disorders
- CRISPR and Genetic Engineering
- Photoreceptor and optogenetics research
- Photochromic and Fluorescence Chemistry
- Neuroscience and Neural Engineering
- Advanced biosensing and bioanalysis techniques
- Cell Image Analysis Techniques
- Single-cell and spatial transcriptomics
- Genetic and Kidney Cyst Diseases
- Pluripotent Stem Cells Research
- Retinal Diseases and Treatments
- Connexins and lens biology
- Neurogenesis and neuroplasticity mechanisms
- Planarian Biology and Electrostimulation
- Cystic Fibrosis Research Advances
University College London
2020-2023
Children's Medical Research Institute
2020-2023
The University of Sydney
2020-2023
Great Ormond Street Hospital
2023
Age-related macular degeneration and other diseases result in the loss of light-sensing cone photoreceptors, causing irreversible sight impairment. Photoreceptor replacement may restore vision by transplanting healthy cells, which must form new synaptic connections with recipient retina. Despite recent advances, convincing evidence functional connectivity arising from transplanted human photoreceptors advanced retinal is lacking. Here, we show restoration visual function after...
Advances in the study of neurological conditions have been possible because pluripotent stem cell technologies and organoids. Studies described generation neural ectoderm-derived retinal brain structures from cells. However, field is still troubled by technical challenges, including high culture costs variability. Here, we describe a simple economical protocol that reproducibly gives rise to retina cortical regions confluent cultures The spontaneously generated organoids are...
The generation of retinal organoids from human pluripotent stem cells (hPSC) is now a well-established process that in part recapitulates development. However, hPSC-derived photoreceptors exhibit well-organized outer segment structures have yet to be observed. To facilitate improved inherited disease modeling, we determined conditions would support development maturing photoreceptors. We established the use antioxidants and BSA-bound fatty acids promotes formation membranous segment-like...
Characterizing cell identity in complex tissues such as the human retina is essential for studying its development and disease. While retinal organoids derived from pluripotent stem cells have been widely used to model disease of retina, there a lack studies that systematically evaluated molecular cellular fidelity various culture protocols recapitulating their vivo counterpart. To this end, we performed an extensive meta-atlas characterization identities eye, covering wide range...
Abstract Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause severe retinal ciliopathy, X-linked pigmentosa. Although two major alternatively spliced isoforms, RPGRex1-19 and RPGRORF15, are expressed, the relative importance of these isoforms disease pathogenesis is unclear. Here, we analyzed fibroblast samples from eight patients found that all them form longer cilia than normal controls, albeit to different degrees. mutant RPGRORF15 messenger RNAs (mRNAs) unstable, their...
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The 10th most common mutation, c.3178-2477C>T (3849+10kb C>T), involves a cryptic, intronic splice site. This mutation was corrected CF primary cells homozygous for this delivering pairs of guide RNAs (gRNAs) with Cas9 protein ribonucleoprotein (RNP) complexes that introduce double-strand breaks to flanking sites excise 3849+10kb C>T followed DNA repair non-homologous end-joining pathway, which...
Summary Characterizing cell identity in complex tissues such as the human retina is essential for studying its development and disease. While retinal organoids derived from pluripotent stem cells have been widely used to model disease of retina, there a lack studies that systematically evaluated molecular cellular fidelity various culture protocols recapitulating their vivo counterpart. To this end, we performed an extensive meta-atlas characterisation identities eye, covering wide range...