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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The advent of small-molecule targeted therapies, a decade ago, revolutionized the treatment of metastatic melanoma, provided that the tumors carry the mutations to respond to these treatments. However, despite a remarkable ...
Sep 22, 2022
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An international research group, led by Jamey Marth, Ph.D., a professor at Sanford Burnham Prebys, has shown that the Neuraminidase 3 (Neu3) enzyme is responsible for the onset and progression of colitis—a chronic digestive ...
Jul 16, 2021
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All the cells in the human body share the same genes. But how our genes are expressed determines whether a cell becomes a brain cell or a liver cell. In addition, changes in gene expression often play a significant role in ...
Jan 25, 2021
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Administering stem cell or enzyme therapy in utero may be a path to alleviating some congenital diseases that often result in losing a pregnancy, according to a new study in mice by UC San Francisco researchers, who showed ...
Feb 26, 2020
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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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Scientists have unraveled how mutant molecules damage the nervous system of people with Charcot-Marie-Tooth (CMT) disease, a group of disorders that hinder people's ability to move and feel sensation in their hands and feet, ...
Oct 21, 2015
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Researchers from the School of Medicine at The University of Texas Health Science Center at San Antonio have found evidence that directly links disrupted metabolism (energy production in cells) to a common and often fatal ...
Jul 17, 2015
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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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