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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A first-in-man clinical trial, testing a newly developed drug for a rare genetic condition called mucopolysaccharidosis type II (MPS II) or Hunter syndrome, is underway at Emory University.
Jun 3, 2015
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Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements ...
Feb 17, 2015
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REGENXBIO Inc. today announced that gene transfer mediated by REGENXBIO's NAV AAV8 vectors resulted in sustained serum α-L-iduronidase (IDUA) expression, as well as correction of systemic features of MPS I, or Hurler syndrome, ...
Sep 30, 2014
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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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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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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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Enzyme therapy proves effective in treating LSDs, whilst gene therapy is an upcoming contender.
Apr 15, 2014
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On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under ...
Apr 15, 2014
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A promising new therapy has – for the first time – reduced damage to the brain that can be caused by Sanfilippo B (MPS IIIB), a rare and devastating genetic disease, Los Angeles Biomedical Research Institute (LA BioMed) ...
Feb 12, 2014
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