RESEARCH - KEY RESEARCH AREAS - GENETICS

Single Gene Disease        Complex Disorders       Evolutionary Genetics    

Single Gene Disease

Monogenic diseases arise from mutations in a single gene. They may be X-linked (where males with a single X chromosome are much more likely to be affected), dominant (where only a single mutant gene is needed), or recessive (where two mutant copies of the gene are needed) disorders. Ongoing work includes studies of the genes responsible for retinal dystrophies, inherited cataracts, glaucoma and corneal dystrophies. Retinal dystrophies are sub-divided into retinitis pigmentosa or rod-cone dystrophies, cone and cone-rod dystrophies, and macular dystrophies: these are heterogeneous classes with many different gene mutations giving similar clinical phenotypes. Recent successes in the linking of disease to gene mutation include two genes that specify splicing factors involved in RNA processing in retinitis pigmentosa, and the NRL gene in retinitis pigmentosa, the genes for retinal guanylate cyclase and RIMS1 in cone-rod dystrophy, the gene for guanylate cyclase activating protein in cone dystrophy, a potassium channel gene in cone dystrophy with supernormal rod light response, the gene for Nance-Horan syndrome, and the genes underlying various forms of cataract.

IoO researchers working in this area:

Professor Robin Ali
Professor Shomi Bhattacharya
Professor Alan Bird
Professor Mike Cheetham
Dr Alison Hardcastle
Professor David Hunt
Professor Tony Moore
Dr Andrew Webster

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