Roxanne Khamsi
speaker
252 appearances
2 recordings
2 series
first heard Apr 2026
last heard 9 Jun
Roxanne Khamsi’s voice in public audio — every appearance, attributed to the second.
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recordings per month · last 12 monthsRecordings per month over the last 12 months — 2 in all, peaking in Jun 2026 with 1.
Appearances
Now, if you inherit a mutation, say for a sickle cell or cystic fibrosis or Tay-Sachs,
that mutation is found in all the cells of your body.
But if a spontaneous genetic DNA error occurs, it is only in some of the cells of your body, going back to that idea of mosaic.
That being said, you can still develop a genetic disease that is full-blown if it develops early enough in your life.
Also, if it develops later, but in an important cell, say in your brain,
you could have a genetic disease that affects you profoundly.
So we're talking about scientists now understanding that spontaneous DNA errors can cause epilepsy, autism.
There's a long list of common diseases that can be caused by genetic errors that spontaneously occur.
Yeah, definitely.
So when I tell people that I'm interested in this, they often ask, so are you writing about epigenetics?
And I kind of have to shift their thinking because I am interested in epigenetics.
I write about epigenetics, but I really wanted to focus on the actual sequence changes that happen.
So epigenetic markers sit on top of the DNA.
But what I'm talking about here are actual changes to those three billion nucleotides that make up the human genome in each of our cells.
Yes, definitely.
This is one of the reasons I had to write this book because I was shocked.
I learned about this about eight years ago when I read that in the New England Journal of Medicine, they had a brand new paper suggesting that mutant blood cells were not only linked to cancer, but in some people that had no cancer were doubling the risk of heart disease, stroke, all these cardiovascular diseases.
And I was just shocked because I'd never thought about mutation as causing these kind of
diseases.
It was completely new to me.
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