Sometimes, the race to develop breakthrough treatments for rare and devastating illnesses can feel less like the Indy 500 and more like a game of Curling played by armless sloths.
By its nature, drug research is slow and methodical. The scientific method demands results be reproducible, even more so when lives are on the line.
If you’re living with a disease like spinal muscular atrophy (SMA), it can be damn frustrating to watch scientists playing with mice while your condition worsens.
But there’s a reason they call breakthroughs “breakthroughs”: When you make a discovery that changes everything, it smashes down the walls that separate the world we used to know and the world yet to come. The good news for SMA patients is that researchers may have just taken a huge, mouse-shaped wrecking ball to that wall.
First, the background: People living with SMA are missing motor neurons, a type of nerve cell in the spinal cord and brain stem that help control muscle movement.
Mutations in certain genes responsible for creating the proteins that help motor neurons survive cause the cells to die, leading to a loss of muscle function and atrophy. While several of these gene mutations responsible for SMA were already well-known, scientists at the University of Cologne in Germany recently discovered an entirely new protein, neuronal calcium sensor neurocalcin delta (NCALD).
Research on mice with severe SMA suggests that lower levels of this protein could help improve lost motor symptoms. After lowering the mice’s NCALD levels and boosting the levels of a different protein, the results hit a sweet spot: improved motor symptoms AND survival rates.
It is quite literally a small start, but its implications are huge. With more work, researchers may one day be able to create a genetic “cocktail” that compensates for an SMA patient’s lost motor neurons. While that day is a ways off, no one is taking a victory lap just yet—it does represent a significant step in winning the only race that really matters. And that’s a prize worth waiting for.
