When was sickle cell disease discovered?

Sickle cell disease was discovered more than 70 years ago. In this video, HealthMaker Gary Gibbons, MD, director of the National Heart, Lung, and Blood Institute describes how knowledge of the condition translates into treatment.

Transcript

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The tools to change the genome are evolving. And so indeed to think about curing this disorder not

00:07

necessarily by a donor match of a bone marrow but actually going in and fixing the defect.

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It may seem a paradox, but actually sickle cell disease was the first molecular disease where we actually

00:33

knew the genetic defect over 70 years ago now. And although we've had that information,

00:40

it wasn't a lot that it really translated into in terms of TO treating it. But now in the 21st century those tools

00:47

are now becoming available again where we can have the sequencing technology, can appreciate that there may be other genetic susceptibilities that

00:55

may influence who has that sickle cell disease, but most likely to develop stroke or more likely to develop the kidney disease.

01:01

Understanding how the genes interact. The tools to change the genome are evolving.

01:09

And so indeed to think about curing this disorder, not necessarily by a donor match of a bone marrow

01:17

but actually going in and fixing the defect, to me, those are the exciting opportunities that are on the horizon. Not there yet, but something that gives us a lot of hope.