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Breakthrough in identifying new genes in age-related macular degeneration

"The results of this study are very exciting and have international significance in the fight to prevent people losing their sight to age-related macular degeneration"

Dr Louise Porter

A Department of Eye and Vision Science team, led by Dr Louise Porter, have identified new genes linked to the development of the most common cause of blindness in the western world, age-related macular degeneration.   This breakthrough provides new insights into gene behaviour and identifies new targets for developing treatments to prevent blindness.

Age-related macular degeneration is a degenerative disorder of the central retina, at the back of the eye, and the most common cause of sight impairment in those aged over 50.  It is predicted that by 2040 it will affect 288 million people around the world. There are two forms of AMD, wet and dry; whilst wet is treatable there is no treatment for dry AMD forms.

Largest study of its kind

The ground-breaking study is the largest of its kind to-date using donated human eye cells to show a relationship between certain genes and early and intermediate AMD, some of which have not been previously linked to AMD.   

Dr Louise Porter, Clinical LecturerDr Louise Porter, Clinical LecturerDr Louise Porter, said “The results of this study are very exciting and have international significance in the fight to prevent people losing their sight to age-related macular degeneration.  Our findings provide new targets and a rational basis for the design of much-needed new treatment strategies.”

Dr Porter was part of team of 12 scientists to carry out this study that took 3 years to conclude. The study was recently published in the leading journal in this field of work, Clinical Epigenetics. 

The full study can be read by clicking here.