The cause of a disease often affects its treatment plan. The need to fill this gap in our understanding of disease biology is further exaggerated in the case of 'rare' diseases.
Feb 18, 2020
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A multidisciplinary team headed by Valencia University (UV) professor Juan Alberto Sanchis Gimeno reports on the link between the shape of the ribs and lung function in patients with osteogenesis imperfecta, a rare disease ...
Feb 17, 2020
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What if the key to a better understanding of schizophrenia has been here all along—but researchers haven't had the resources to study it?
Feb 12, 2020
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Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.
Feb 4, 2020
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(HealthDay)—Kertisha Brabson's mom rushed to the hospital after being told her adult daughter was acting out of her mind.
Jan 23, 2020
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A team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the first cellular model of the disease. The study's findings were ...
Jan 22, 2020
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A young boy with a rare genetic disease that typically kills within weeks of birth is now 3 years old and in remission thanks to a collaborative effort that included physicians at King Saud University Department of Pediatrics ...
Jan 15, 2020
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Researchers at Massachusetts General Hospital (MGH) have developed a new way to alleviate problems caused by dysfunctional mitochondria, which are the "powerhouses" that produce energy in cells. Their discovery, reported ...
Jan 13, 2020
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Research led by Professor Steve Wilton and Professor Sue Fletcher and licensed to Sarepta Therapeutics has delivered a second treatment for Duchenne muscular dystrophy, with the drug gaining accelerated approval by the U.S. ...
Jan 8, 2020
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One in every 15,000 children is affected by Prader-Willi syndrome (PWS), a complex, genetic endocrine condition caused by a disorder of chromosome 15. It's non-inheritable, meaning the condition isn't passed down from a family ...
Jan 3, 2020
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