A team led by researchers at Baylor College of Medicine has uncovered an unexpected mechanism that can explain a form of Batten disease called neuronal ceroid lipofuscinosis 8. The findings published in the journal Nature ...
Nov 05, 2018
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An international study has shed new light on the genetic factors associated with Parkinson's disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of ...
Nov 14, 2017
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Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.
Feb 22, 2017
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Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and King's College London have discovered a treatment that improves the neurological symptoms in a ...
Feb 06, 2017
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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 09, 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 03, 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 04, 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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