The eyes have it: From genetics to gene therapy

In surveys people consistently rank vision as their most valued sense, but the reality is that many of us will have to face deteriorating eyesight thanks to genetic eye diseases. Around two million people are affected by visual loss as a result of genetic disorders. The idea of losing your sight is frightening so research into understanding the causes of genetic eye conditions and seeking treatments or cures is really important.

There are more than 350 inherited eye diseases and more than 500 genes that causing these conditions. MRC Human Genetics Unit (HGU) research into eye disease spans inherited conditions affecting the retina, the cornea and the whole eye. MRC HGU with support from the MRC has sponsored a Genetics Unzipped Podcast "The eyes have it: From genetics to gene therapy" out on Thursday, 2 July 2020.

This podcast episode reveals some of the innovative research currently taking place on genetic eye conditions. How are researchers, doctors and people living with genetic eye diseases working together? Find out about research into the genetic causes of some eye diseases through to urgently-needed treatments that could save or restore sight.

Chloe Stanton 

A Research Fellow describes her research on the genetic causes of eye diseases that affect the eye’s cornea or the retina.

Ken Reid

Now in his early 60’s, describes gradually losing his sight as a teenager and being diagnosed with a degenerative eye condition Retinitis Pigmentosa at 26. Ken reveals how he has learned to cope with a series of ‘new normals’ and why he decided to support MRC HGU research by generously providing a skin biopsy.

Roly Megaw 

Consultant Ophthalmologist and Clinical Researcher has both a clinical and research interest in genetic eye disease. Roly talks about his research that focuses on the inherited retinal dystrophy called Retinitis Pigmentosa. 

Professor Robin Ali

Director of the Centre for Cell and Gene Therapy, King’s College London outlines his research on developing gene and cell therapy for the treatment of retinal disorders and the gene therapy trial on Retinitis Pigmentosa and looks into the future.

Mary Derrick

Partnership Communications Manager, Medical Research Council said "Engaging meaningfully with people living with genetic eye conditions ensures that MRC-funded research better reflects their needs and aspirations, with the goal of increasing the beneficial impacts on their lives".