The world, the universe and us cover image

#174 Finding the universe’s missing matter; saving babies’ lives by sequencing their genomes; the earliest horse riders - the latest news in science

The world, the universe and us

00:00

Did I Identify the Genetic Cause of These Baby Symptoms?

About 10% of the babies who did get a diagnosis of a rare genetic disease were able to get effective treatments that did specifically target their condition. The sequencing was done so quickly, his parents were able to agree to try an experimental treatment called ambroxol when he was just two weeks old. And amazingly, he's responded almost straight away to this treatment. Since then, he's been completely healthy. He is now two years old and he's doing all the things that two year old boys would do - which is pretty incredible considering that he was close to dying when he was a newborn.

Transcript
Play full episode

The AI-powered Podcast Player

Save insights by tapping your headphones, chat with episodes, discover the best highlights - and more!
App store bannerPlay store banner
Get the app