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Precision Medicine

Tertiary Care for Inherited Retinal Disease (IRD)

Lead: Assistant Professor Chan Hwei Wuen

Co-Lead: Assistant Professor Su Xinyi
Co-Lead: Dr Wendy Wong Meihua

Visual impairment is a major global health issue, with more than one billion sufferers worldwide. Age-related Macular degeneration (AMD) and Inherited retinal dystrophies (IRD) are the main causes of irreversible blindness worldwide, which affected 196 million people in 2020 and accounts for 20% of blindness in those aged between 16 and 64 years of age, respectively. In both advanced AMD and IRD, there is a profound reduction in the quality of life due to loss of central vision, due to retinal cell death.

Our programme aims to develop an innovative, bespoke, combinatorial cell and gene therapy therapeutics platform for treatment of retinal degenerative disease. We aim to augment retinal therapy by addressing the following specific aims:


  1. To perform a comprehensive characterisation of the natural history of patients with IRDs in a multi-ethnic Asian cohort at NUH: An in-depth understanding of the natural history of the IRD is essential for disease prognostication and identification of the appropriate stage of the disease for therapeutic intervention.

  2. To identify patients with genetic mutations that are potentially amenable for either gene or RNA-based therapeutics: This includes gene therapy in collaboration with industry partners or developing in-house variant-specific antisense oligonucleotide therapy to slow or even halt their retinal degeneration and associated vision loss.

  3. To establish in-house capabilities for patient iPSC derived retinal organoid models for therapeutics validation. Our research team is able to grow patient-derived retinal organoid models recapitulate disease phenotype in vitro at a molecular, cellular, and functional level. These models can be used to evaluate the efficacy and efficiency of our bespoke gene and RNA therapeutic modality.

  4. To develop capabilities for first-in-man clinical trials for retinal stem cell transplants using first-in-the-world FDA approved retinal progenitor cells for the treatment of Retinitis Pigmentosa by 2024.