Gaucher (pronounced "go-shay") disease affects one in 450 Jewish people of Ashkenazi (eastern European) descent (one in 10 is a carrier), yet only 1 in 40,000 people in the general population. Of course mutations can happen ...
Dec 9, 2016
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In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...
Nov 11, 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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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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A European Journal of Neuroscience study suggests that it is critical to treat lysosomal storage disorders early, before symptoms arise. These genetic disorders, which are caused by the malfunction of enzymes that normally ...
Aug 4, 2014
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Sanfilippo A syndrome or Mucopolysaccharidosis IIIA (MPS-IIIA) is a rare genetic lysosomal storage disease inherited from the parents of the patient. Lysosomes are the body's vehicle for breaking down many of its by-products ...
May 22, 2014
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Several young children suffering from a severe degenerative genetic disease received injections of therapeutic genes packaged within a noninfectious viral delivery vector. Safety, tolerability, and efficacy results from this ...
Mar 11, 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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Researchers used blood platelets and bone marrow cells to deliver potentially curative gene therapy to mouse models of the human genetic disorder Hurler syndrome – an often fatal condition that causes organ damage and other ...
Feb 4, 2014
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(Medical Xpress)—Michael Gelb and František Tureček have worked more than a decade to devise and implement newborn screening for some debilitating, often-fatal conditions that show up in the first year to several years ...
Apr 2, 2013
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