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That motivated her early in her career, when she met her first patients at the Max Planck Institute for Neurobiology near Munich in the 1990s. “Apart from physiotherapy, there is nothing we can recommend right now,” she says. She needs these qualities because the 60-year-old neurologist has one of the toughest jobs in the world: All day long, patients with the incurable diagnosis of muscular dystrophy come to her clinic, and she watches them decline over the years.
A SENTENCE WITH THE WORD MOLECULE PROFESSIONAL
She projects a warm, motherly air and a professional calm that inspires trust from her patients. “We now have the possibility to repair certain mutations with genetic editing,” Spuler says.
![a sentence with the word molecule a sentence with the word molecule](https://sciencenotes.org/wp-content/uploads/2016/07/love.png)
It’s still comparatively new but has advanced quickly since its discovery in the early 2010s. “It’s really just one tiny molecule that doesn’t work properly,” Spuler explains.ĬRISPR-Cas9 is a technology that lets scientists select and alter parts of the genome. In 2019, they made a spectacular breakthrough: For the first time, they successfully used mRNA to introduce the CRISPR-Cas9 tool into human muscle stem cells to repair the dystrophy. The devastating progression of the disease is what motivates Spuler and her team of 25 scientists to find a cure. The CDC estimates that its most common form, Duchenne, affects 1 in every 3,500 to 6,000 male births each year in the United States. In Germany alone, 300,000 people live with this illness, the youngest barely a year old. Muscle decline leads to a wheelchair and, eventually, an early death due to a heart attack or the inability to breathe. This is the reality for most people in Simone Spuler’s outpatient clinic at the Charité Hospital in Berlin, Germany: Almost all of her 2,500 patients have muscular dystrophy, a progressive illness striking mostly young people. No training, no protein shake can rebuild their function. Now imagine they are slowly losing their strength. Muscles make up 40 percent of your body weight we usually have 656 of them.
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