In this episode of the Genetics Unzipped podcast, supported by the UK Medical Research Council, Kat Arney and stay-at-home roving reporter Georgia Mills discover how researchers are letting the light shine in, literally, by bringing discoveries about the underlying genetic faults that cause eye diseases all the way through to game-changing clinical trials of gene therapy designed to save sight.
Georgia speaks with sight loss charity campaigner and fundraiser Ken Reid about his experiences of living with the genetic eye condition Retinitis Pigmentosa (RP) – a hereditary disease that causes the gradual degeneration of light-sensitive cells in the back of the eye.
Ken first realised that something was wrong with his sight when he was a party-going teenager in the 1970s.
“I always had very poor eyesight and couldn’t understand how people could do things in the dark,” he says.
“Most people probably don’t remember what discos in the ’70s were like, but they were just dark. You had this lovely interaction where it was very noisy, it was very dark and there were some flashing lights. I could see nothing and trying to find somebody to dance with was a real torment. I didn’t know how people managed it!”
At the MRC Human Genetics Unit in Edinburgh, Chloe Stanton is searching for the gene faults that underpin RP and other hereditary eye diseases, with more than 100 RP genes identified so far. And, as she explains, she got a little extra encouragement for her research from her family.
“Some of these conditions are very common and many of us will know people who are directly affected by them,” Chloe says.
“For example, when I was working on age related macular degeneration, I spoke to my grandmother regularly. Every single time I spoke to her she would tell me about her friend who lived up the road whose eyes were affected by [the condition] – she was very keen that I should hurry up my research and find a cure for Betty who lived up the road.”
To find out more about what all these genes actually do, her colleague at the MRC HGU, Roly Megaw, is growing tiny ‘mini-eyes’ in the lab from induced pluripotent stem (iPS) cells originally derived from skin samples – including one from Ken Reid himself. According to Megaw, watching this process unfold is truly fascinating.
“This little bunch of brain cells just knows how to form an eye – it starts to produce these retina-like cells, they organise themselves, they fold in on themselves to form this little three dimensional mini-eye,” he says. “It really is quite incredible, the inherent ability of these cells to do what they are supposed to do.”
Finally, Robin Ali at King’s College London is running clinical trials of gene therapy for inherited eye disorders. There’s been impressive progress in recent years, and he’s hopeful that treatments will come through for people like Ken.
“In the 25 years I’ve been working on developing gene therapy for retinal degeneration, we’ve seen huge advances. I think we couldn’t imagine how far we could come,” Robin says.
“I remember when I first started, we were working out ways to deliver genes to the retina and we were pleased if we saw just one or two cells that had taken up a virus and maybe expressing a gene for a couple of weeks. We are now able to rescue dozens of different animal models highly effectively. It’s just a matter of time until this technology can be applied as effectively to humans.”
Listen to the full episode and find a full transcript at GeneticsUnzipped.com
Genetics Unzipped is the podcast from the UK Genetics Society, presented by award-winning science communicator Dr Kat Arney and produced by First Create the Media. Follow Kat on Twitter @Kat_Arney, Genetics Unzipped @geneticsunzip, and the Genetics Society at @GenSocUK