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A Single Drop of Blood Could Reveal Rare Diseases!

Summary by Futura
Diagnosing a rare disease today remains a major challenge, often long and with uncertainties for both patients and doctors. A new scientific breakthrough from Australia could upset this reality: an innovative blood test, capable of detecting thousands of people with a...
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Last May, medicine and, above all, worried parents celebrated the new fate of little K.J. A team from the Children’s Hospital in Philadelphia created a personalized genetic therapy to correct the mutation of this little boy less than a year old diagnosed with a rare disease. Although, despite the success of the treatment, it is still necessary to follow up throughout his life. This has been possible thanks to the genetic editing technology CRISP…

Diagnosing a rare disease today remains a major challenge, often long and with uncertainties for both patients and doctors. A new scientific breakthrough from Australia could upset this reality: an innovative blood test, capable of detecting thousands of people with a...

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Futura broke the news in on Monday, June 9, 2025.
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