What is an IRD?

Sometimes, when genetic mutations have a negative effect, the resulting protein that your cell makes doesn’t work the way it’s supposed to. This can have drastic downstream effects on the overall function of a cell.

For example, a genetic mutation in a waste-disposing protein might stop it from working properly. In this case, if a cell cannot get rid of its waste, it will eventually die.

When genetic mutations affect the way the cells of the retina work, the cells begin to deteriorate. Over time, this results in a progressive loss of vision. These conditions are called Inherited Retinal Degenerations, or IRDs.

There are many different kinds of IRDs, with hundreds of mutations that can cause them. Knowing your code, or mutation, can help researchers understand exactly what is happening in your cell; which protein is not acting how it should, and if there is a way to slow down, stop, or reverse the process.

If you would like to learn more about IRDs, visit our IRD microsite.