Thanks to the sequencing of the human genome, scientists can now discover potential disorders for which there are no known patients. One such disorder is MPS III-E, originally also called Dierks's disorder after its discoverer. ...
Jan 8, 2018
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Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS I. It is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. MPS I eventually ...
Jul 28, 2016
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After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently ...
Jan 26, 2017
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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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Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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Adding a third anti-cancer agent to a current drug cocktail appears to have contributed to dramatic improvement in three infants with the most severe form of Pompe disease—a rare, often-fatal genetic disorder characterized ...
Oct 11, 2012
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Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, ...
Jan 5, 2012
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Hop-based dietary supplements that many women use to ease the night sweats and hot flashes commonly reported during menopause aren't likely to cause drug interactions, new research from Oregon State University's Linus Pauling ...
May 19, 2020
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Using a protocol developed at UC San Francisco, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler, a case study in the New England ...
Nov 10, 2022
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Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, ...
Feb 15, 2013
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