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  • What is AURORA

    Aurora is a next-generation noninvasive prenatal test. AURORA is safe, reliable, quick
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    Thanks to an easy maternal blood drawn, you avoid miscarriage risks associated to invasive methods such as amniocentesis or chorionic villus sampling

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Latest news from the world of genetics


Two coffees a day are enough to save a life

Two coffees a day was enough to change the life of a boy with familial dyskinesia with facial myokymia. Thanks to this strange therapy, the eleven year old showed a 90% reduction in involuntary movements.

This allows him to walk to school, write without difficulty and even ride a bike. All things impossible for him until recently. Familial dyskinesia with facial myokymia is a disease caused by a mutation in the ADCY5 gene. Children who suffer from it have to live with involuntary movements that involve the whole body. Night and daytime crises can even worsen the situation, making a normal life impossible. To date there is no definitive cure, yet a father and daughter claim to control crises by drinking coffee.

A team from the neurology department of the Pitié-Salpêtrière Hospital and the Brain and Spinal Cord Institute decided to test the statements of the two. The doctors studied the case of an 11-year-old patient. The boy suffered from about 30 episodes of involuntary movements a day, which precluded him many normal activities for his peers.

The doctors then prescribed him a cup of espresso in the morning, one in the afternoon and a half in the evening. The sui generis treatment has almost completely eliminated the episodes, but it is not conclusive. It was enough to give the boy a cup of decaffeinated coffee, to have a total regression. By replacing caffeine in the morning routine, the symptoms of the disease disappeared again. Considering this episode, it is unlikely to be a simple placebo effect.

Source: annals.org

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