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UCL Great Ormond Street Institute of Child Health

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Prof. Jane Sowden


Eye Development and Repair Group

Research in the eye development and repair group aims to identify the genetic pathways underlying normal eye development and to understand how mutations in key genes cause eye malformation and disease. Our research is focussed on understanding the developmental regulation of ocular stem and progenitor cells that offer the potential for repair and regeneration of diseased eye tissue. 

In the UK, 1 in every 1,000 children are visually impaired or blind. More than a quarter of all cases are caused by congenital eye defects. These include the condition microphthalmia, in which the embryonic eye fails to grow, conditions involving malformations of the anterior segment of the eye and glaucoma, and conditions involving abnormal development and degeneration of photoreceptor cells. Congenital eye defects are often found in association with other non ocular malformations and children with these syndromes are frequently seen by clinical colleagues at Great Ormond Street Hospital for Children NHS Trust.

Mutations in genes encoding transcription factors are the most common known cause of congenital eye defects. To improve understanding of the aetiology of these conditions, a range of experimental approaches (molecular biology, embryology, cell biology, genetics) are being used to explore the function and interactions between key transcription factors during eye development. The prevalence of different types of genetic change in affected individuals is being analysed to improve diagnosis and identify asssociated risk factors.

A central research theme is study of the molecular mechanisms regulating proliferation of retinal stem/progenitor cells and the generation of retinal neurons from these progenitor cells.

Research includes investigation of embryonic retinal progenitor cells and retinal stem/progenitor cells derived from the adult eye. We have recently shown that transplanted photoreceptor precursors can improve visual function in animal models of retinal disease. We are pursuing development of retinal stem therapy for the treatment of retinal disease in collaboration with Professor Robin Ali at the UCL Institute of Ophthalmology.

Adult-derived retinal stem cells are potentially useful as a source of new neurons for treatment of retinal disease. Identification of genetic pathways and environmental conditions that are sufficient to promote production of new retinal neurons from retinal stem cells is an important current goal.