Spanish patients with Fabry disease, a rare hereditary condition where abnormal fatty deposits collect in blood vessels and organs throughout the body, appear to react differently to those in other European countries, according ...
Jul 20, 2011
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Valerie Byers had long suspected that her son Will's diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that 5-year-old ...
Jul 17, 2015
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The U.S. Food and Drug Administration has approved Xenpozyme (olipudase alfa) for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD), a rare genetic disease.
Sep 5, 2022
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Treating the rare disease MPS I is a challenge. MPS I, caused by the deficiency of a key enzyme called IDUA, eventually leads to the abnormal accumulation of certain molecules and cell death.
Aug 26, 2014
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Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.
Apr 16, 2021
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A targeted therapy, currently being studied for treatment of certain cancers including glioblastoma, may also be beneficial in treating other neurologic diseases, a study at the University of Cincinnati shows.
Apr 6, 2020
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Researchers are working hard to fight childhood dementia and hope a new enzyme replacement therapy can help those unlucky enough to have such a debilitating disease.
Sep 1, 2017
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MPS IIIB is a devastating and currently untreatable disease that causes progressive damage to the brain, leading to profound intellectual disability, dementia and death—often before reaching adulthood.
Sep 29, 2014
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A team of Canadian physicians and researchers is believed to be the first in the world to have used gene therapy to treat a patient with Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten ...
Feb 16, 2017
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In the second of two papers outlining new gene-therapy approaches to treat a rare disease called MPS I, researchers from Perelman School of Medicine at the University of Pennsylvania examined systemic delivery of a vector ...
Sep 29, 2014
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