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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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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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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"Childhood" and "dementia" are two words we wish we didn't have to use together. But sadly, around 1,400 Australian children and young people live with currently untreatable childhood dementia.
8 hours ago
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The UK regulatory authorities have approved the first ever trial of a revolutionary gene therapy for young children diagnosed with Hunter syndrome, a devastating rare lysosomal storage disorder.
Oct 30, 2023
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The U.S. Food and Drug Administration has approved Xenpozyme (olipudase alfa) for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD), a rare genetic disease.
Sep 5, 2022
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Autoimmune conditions like Type 1 diabetes, multiple sclerosis and rheumatoid arthritis arise when an immune system mistakenly attacks its own body's proteins, cells and organs. Not only do these conditions make the body ...
Nov 29, 2021
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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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