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TED Talks Daily

The world's rarest diseases — and how they impact everyone | Anna Greka

TED Talks Daily

TED

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4.111.9K Ratings

🗓️ 28 September 2023

⏱️ 13 minutes

🧾️ Download transcript

Summary

Physician-scientist Anna Greka investigates the world's rarest genetic diseases, decoding the secrets of our cells through "molecular detective work." She explains how her team is using new, advanced technology to solve decades-old medical mysteries — and shows how this work could help develop precision treatments for millions of people across the globe.

Transcript

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0:00.0

It's Ted Tossali, I'm your host, Elise Hugh.

0:06.9

It's pretty wild to think that a single extra letter in DNA can lead to disease and early

0:12.4

death.

0:13.4

But cellular researcher Anna Greka is doing something about this.

0:17.5

In her Ted 2023 talk, she explains how researchers can solve medical mysteries through molecular

0:24.0

level sleuthic and the promise that it holds after a break.

0:30.8

I'd like to begin by telling you a story.

0:33.5

It's a short story about a special family.

0:37.8

In 1960, a Utah man by the name of Roscoe Nelson, a father of six, died suddenly of unknown

0:46.7

cause.

0:48.2

He was 43 years old.

0:51.1

As a surgeon himself, Dr. Nelson knew that his progressive kidney failure would ultimately

0:57.1

take his life, but he was in the dark as to the cause and he had no access to treatment.

1:04.6

Within two decades, tragedy struck again when four of Roscoe's six children also developed

1:11.0

kidney failure.

1:13.4

Looking back, as far back as the 1800s, every generation in this family has been struck

1:19.8

down at a young age by a mysterious and vicious disease.

1:25.1

What could be the cause?

1:28.3

Fast forward to 2013, a team of brilliant geneticists identified the cause of Roscoe

1:33.8

Nelson's deadly disease.

1:36.0

It was a mutation, a single extra letter in the DNA hiding in a dark corner of a gene called

1:43.8

Mach 1.

...

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