MeSH tree: E02.319.353
Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.
Jan 5, 2026
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A study evaluating a pioneering lentivirus (LV)-mediated gene therapy trial for classical Fabry disease showed promising results over five years, indicating a potential breakthrough in treatment for the genetic disorder.
Jul 25, 2025
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Scientists have successfully restored hearing in animal models of ENPP1 deficiency, a genetic disease in which individuals lack an enzyme essential for bone and blood vessel health. The rare disorder can cause hearing loss ...
Jul 18, 2025
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Researchers at Washington University School of Medicine in St. Louis have described the neurodegeneration that occurs in the nervous system of the bowel in Batten disease, a rare and fatal genetic condition. In their latest ...
Jan 15, 2025
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A new treatment that could prevent blindness in children with the CLN2 type Batten disease has been trialed by clinicians and researchers at UCL and Great Ormond Street Hospital (GOSH).
Nov 12, 2024
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Gregory and Deborah Macres from California lost their son, Gregory, in 1997, when he was just 4 years old. Little Gregory had a severe form of a rare genetic disorder called Gaucher disease and died after unsuccessful experimental ...
Oct 14, 2024
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An enzyme-based treatment developed by Yale researchers mitigated autoimmunity and reduced death rates in both genetic and non-genetic mouse lupus models, a new study reveals.
Jun 20, 2024
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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.
Apr 26, 2024
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The U.S. Food and Drug Administration has approved Takeda Pharmaceuticals Adzynma, the first recombinant protein product indicated for prophylactic or on-demand enzyme replacement therapy (ERT) in adult and pediatric patients ...
Nov 14, 2023
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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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