Anna Greka

And that's where my sort of adventure began.

It was Eric Lander's group, who is the founding director of the Broad, who discovered the mutation.

And then through a conversation we had here in Boston, we sort of discovered that there was an opportunity to collaborate.

And so that's how I came to the Broad.

That's the beginnings of this story.

I think what's fascinating about this story, though, that starts in a remote Mediterranean island and then turns out to be a disease that you can find in every continent all over the world.

There are probably millions of patients with kidney disease in whom we haven't recognized the existence of this mutation.

What's really interesting about it, though, is that, you know, what we discovered is that the mangled protein that's a result of this misspelling of this mutation is ultimately captured by a family of cargo receptors.

They call the team cargo receptors.

And they end up sort of grabbing these misfolded proteins and holding onto them so tight that it's impossible for the cell to get rid of them.

And sort of they become this growing, you know, heap of molecular trash, if you will,

that becomes really hard to manage and the cells ultimately die.

So in the process of doing this molecular sleuthing, as I call it, we actually also identified a small molecule that actually disrupts these cargo receptors.

And, you know, as I described in my TED talk, it's a little bit like having these cargo trucks that ultimately need to go into the lysosome, the cell's recycling facility.

And this is exactly what this small molecule can do.

And so we were

you know, it was just like a remarkable story of discovery.

And then I think the most exciting of all is that these cargo receptors turn out to be not only relevant to this one mangled misshapen protein, but they actually handle

a completely different misshapen protein caused by different genetic mutation in the eye causing retinitis pigmentosa, a form of blindness, familial blindness.

We are now studying familial Alzheimer's disease that's also involving these cargo receptors.