Posted in Research for a cure or treatment for us

Stars in our eyes

PICTURE DESCRIPTION Picture of myself facing front. Red long hair and green eyes. A close up.

This is what Macular Dystrophy looks like.

My eyes have flaws in them with a genetic condition, but look totally healthy don’t they?

They haven’t altered. Don’t look strange. You cannot tell at all.

So you are looking at a pair of eyes that were made from a faulty eye gene passed from my mother and my father when I was made, during conception.

This is why it is rare. They had to each have the faulty gene… Carriers… (along with one that would have been healthy as, as far as I know, they didn’t have this condition) to pass on to me.

So I got both copies that were a mutant gene.

Luck of the draw. Like everything in life. I didn’t realise this until some decades later.

I have no healthy eyeball genes to pass to my son. So he will nailed on have a mutant, faulty gene from me. Which at the very least makes him a carrier for Macular Dystrophy.

If his father has passed on a healthy one he stays a carrier. If it’s mutant. He’s the same as me.

This is how it transfers from person to person.

This is why research is vital.

And there is positive news ☺

I’ve always said there is hope!

Anything is possible in life. We never know what’s around the corner 🙏 💜

Stargardt research. Potential therapy on the horizon for inherited retinal disease.

Prof. Carel Hoyng, A professor of ophthalmology from Radboud University, The Netherlands, is involved with ongoing gene therapy trials in Stargardt disease.

Research is going into being able to repair the RNA mutations, with the next step being that they will go into clinical Phase 1/2, probably in about a year. At the moment the stage they are at is in talk studies. The next phase after that is to go to in-patients.

An RNA therapy is designed to correct the mistake, or mutation, in the RNA of someone with a genetic disease. By correcting the mistake, the RNA can then be used to create the protein that the cell needs, taking away the underlying cause of the disease.

Ribonucleic acid (abbreviated RNA) is a nucleic acid present in all living cells that has structural similarities to DNA.

If everyone can keep their fingers crossed please that would be smashing🤞🏻

Link for video and more information.

Posted in Research for a cure or treatment for us

Gene editing Stargardt’s Disease

Latest groundbreaking research into gene editing for Stargardt’s Disease.

Link to Macular Society Facebook Post

Hopefully this will slow progression of the faulty gene or potentially stop it in it’s tracks altogether. 🙏 🤞

The most common form of the group of Macular Dystrophies.

This has been completely funded by Macular Society and RetinaUK.

Please help me, to help them succeed! ☺

My fundraising page for Macular Society

Posted in Research for a cure or treatment for us

Macular Society research

Interesting video about the latest research going into finding out more about Macular Dystrophies. So a cure or treatment can be found for us.

Click link for video