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Advent #5: SMA drug - a miracle?

There are diseases that are considered difficult or untreatable. Like Alström syndrome. Until recently, this also applied to spinal muscular atrophy; in short: SMA.

A gene that doesn't work as it's supposed to, disrupts signaling between the brain and muscles. Muscle atrophy is the result. In its most severe form, SMA means: The children never learn to sit and at some point the paralysis hits the airway muscles.

SMA is the leading genetic cause of death in young children. Or should we say: was?

The cause of the disease was found by clever minds in 1995. A therapy option back then? A dream. This was followed by more than 20 years of intensive research; The result: In 2017, the first SMA drug was born. It can make a difference between life and death. Dream became reality.

There are now three drugs. One of them is gene therapy. It restores the appropriate protein that is crucial for our muscles to function. A study by the renowned Charité Clinic in Berlin has just confirmed the effectiveness of the therapy. A miracle, many say.

But it has absolutely nothing to do with miracles.

Such drugs arise because people dig into the secrets of our complex biology. Because they have the will and the perseverance to search for a solution for decades. Because they don't want to put up with the fact that children are born and have no chance of life.

Because their credo is: "There is no such thing as "There is no such thing as".

Correctly, it should therefore be said: There are diseases that ARE SO FAR considered difficult or not at all treatable. But we can change that – as the example of SMA shows.

Because the unthinkable is possible.


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