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Short Wave

A Fragile X Treatment May Be On The Horizon

Short Wave

NPR

Daily News, Nature, Life Sciences, Astronomy, Science, News

4.76K Ratings

🗓️ 6 May 2021

⏱️ 11 minutes

🧾️ Download transcript

Summary

Katie Clapp and Michael Tranfaglia's son was born with a genetic disorder that affects brain development. It makes it hard to learn language and basic daily tasks and often is accompanied by a host of other disorders. To help find a cure, they started a foundation and raised research money. After several setbacks, one treatment is showing promise. NPR neuroscience reporter Jon Hamilton tells Emily Kwong the story.

Transcript

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0:00.0

You're listening to shortwave from NPR.

0:06.4

Hey short waivers, Emily Quang here.

0:08.5

So today we're going to talk about finding a treatment

0:11.7

for a genetic disorder called fragile X syndrome.

0:15.9

Right John?

0:16.8

Right.

0:17.6

So as our resident brain correspondent

0:19.6

here on the science desk,

0:21.3

you've been following the story for a decade.

0:24.2

Yeah, I started reporting on fragile X

0:26.5

way back when it first looked like scientists

0:29.0

might have a drug that could treat the disorder.

0:31.9

And for people who may not have been following the story

0:34.3

as closely as I have,

0:35.2

I should probably mention that fragile X

0:37.6

is an inherited disorder that's caused by mutations

0:40.7

to one particular gene on the X chromosome.

0:43.7

Right, that's why it's called fragile X.

0:46.2

Exactly.

0:47.3

These mutations affect brain development

0:49.6

so they can cause lots of different problems.

0:51.8

The most common one is intellectual disabilities.

...

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