RESEARCH - EYE DISEASES - RETINITIS PIGEMENTOSA

Genetics     Mechanisms of Cell Loss     Gene Therapy     Stem Cell Therapy    


Genetics

Retinitis pigmentosa displays exceptional genetic and phenotypic heterogeneity, and can be inherited as an autosomal dominant, autosomal recessive or X-linked disease. Research at the IoO continues to make a significant contribution to our understanding of the disease mechanisms underlying retina degeneration through our genetic analysis of families suffering all forms of RP. We have identified new genetic loci for dominant, recessive and X-linked RP leading to the characterisation of novel retinal disease genes. Often our research reveals unexpected molecular pathways essential for maintaining normal vision, prime examples of which are the recently described splicing factor gene mutations. Identification of the genes implicated in RP is an important step towards developing targeted therapies. In addition, our genetic analyses unravel the spectrum of mutations which facilitates molecular diagnostics and contributes to a broader understanding of the phenotypic heterogeneity observed in RP.

IO researchers working in this area
Professor Shomi Bhattacharya
Prof Alan Bird
Dr Alison Hardcastle
Professor David Hunt
Dr Andrew Webster

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