Roxanne Khamsi

And what they found is that, indeed, she did have those cells mutated in her heart.

And the thinking is that since she didn't have the mutation throughout her body, it was in that early kind of really dynamic embryonic cell division that a mistake was introduced in her DNA.

And then passed on to part of her body.

Just by chance.

Just by chance.

So it has shifted our perspective of certain inherited diseases to be not just inherited, but also spontaneously occurring.

And I think it's important for people to be aware of this if they want to kind of understand what's going on with their health.

Back in the 1990s, there were these two boys that should have not survived a condition that they were born with.

So they were born with something called ADA SCID, which is an inherited immune deficiency.

And one of the boys actually had a brother that had passed away from it before he was born.

But these kids were doing fine.

And the doctors in New York couldn't understand it.

Then they decided to look at the DNA of these boys more closely.

And what they found out is that in addition to having the inherited disorder, so the mutation that would have caused their immune systems to malfunction, they actually had second corrective mutations that were actually normal.

allowing their immune systems to function well.

And this isn't just a fluke.

So that was with one immunodeficiency, but they found it in patients like, I don't know if people are familiar with Duchenne muscular dystrophy.

Now, this is a disorder that's kind of a progressive muscle disease.

It's tragic.

It's extremely tragic because people die so young.