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Eric Topol

๐Ÿ‘ค Speaker
See mentions of this person in podcasts
3037 total appearances

Appearances Over Time

Podcast Appearances

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

phenomenal stories of your work as a molecular sleuth.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

So maybe if you could give us a synopsis, and of course, we'll link to that so people could watch the whole talk.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

But I think that Mucin 1 or MUC 1, as you call it, discovery is really important to kind of ground our discussion.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

Yeah, and it's pretty extraordinary.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

We'll put the figure from your classic cell paper, 2019, where you have a small molecule that targets the cargo receptor called Tmed9, I guess.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

And what's amazing about this, of course, is the potential to reverse this toxic protein disease.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

And as you say, it may have applicability well beyond

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

of this MUC1 kidney story, but rather eye disease with retinosis, retinosis pigmentosa and the familial Alzheimer's and who knows what else.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

And what's also fascinating about this is how, as you said, you know, there were these limited number of families with the kidney disease.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

And then you found another one, uromedulin, I guess.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

Yes.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

So there's now

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

you know, as you say, thousands of families.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

That gets me to part of your sleuth work is not just, you know, hardcore science.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

You started an entity called the Ladders to Cure Accelerate.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

Tell us about that, because this is really pulling together all the forces, which includes the patient advocacy groups and how we're going to move forward like this.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

Yeah, well, there's many things to get to to unpack what you've just been reviewing.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

So one thing for sure is that of these 8,000 monogenic diseases, they have relevance to the polygenic common diseases, of course.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

Of course.

Ground Truths
Anna Greka: Molecular Sleuthing for Rare Diseases

And then also the fact that the people that the patient family advocates, they are great at scurrying the world internet, finding more people, bringing together communities with each of these, as you point out aptly,