Death in US gene therapy study sparks search for answers
The lone volunteer in a unique study involving a gene-editing technique has died, and those behind the trial are now trying to figure out what killed him.
Nov 4, 2022
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Genetic Diseases, X-Linked
MeSH tree: C16.320.322
Gene therapy with AAV serotype 2 capsid variants for improved liver disease treatments
There are numerous severe, difficult-to-treat monogenetic diseases that are caused by a defect in a single gene—also in the liver. These include the blood coagulation disorders hemophilia A or B or the metabolic disease phenylketonuria. ...
Oct 26, 2022
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Scientists studying fatal muscle wasting disease make significant discovery
Duchenne muscular dystrophy (DMD) is caused by a genetic mutation and affects one in every 5,000 boys born. Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only ...
Sep 27, 2022
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Novel imaging approach reveals important details about rare eye disease choroideremia
By combining traditional eye imaging techniques with adaptive optics—a technology that enhances imaging resolution—researchers at the National Eye Institute (NEI) have shown for the first time how cells across different tissue ...
Sep 14, 2022
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Blocking an ion channel improves muscle function and survival in mice with severe Duchenne muscular dystrophy
Researchers at Johns Hopkins Medicine report that an experimental drug first developed to treat kidney disease prolongs survival and improves muscle function in mice genetically engineered to develop a severe form of Duchenne ...
Sep 13, 2022
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Researchers identify a potential path against inherited neurological disease
Scientists at the Icahn School of Medicine at Mount Sinai in New York, the National Center for Advancing Translational Sciences (NCATS), and elsewhere have reversed the effects of several life-threatening inherited neurodegenerative ...
Sep 8, 2022
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Early intervention effective in treating neurodevelopmental disorders
A new study suggests that therapeutic interventions to treat neurodevelopmental disorders may be more effective if done during the early stages of brain development.
Sep 1, 2022
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Vamorolone effective, safe for boys with Duchenne muscular dystrophy
For boys with Duchenne muscular dystrophy (DMD), vamorolone, a structurally unique dissociative steroidal anti-inflammatory drug, is effective and safe over a 24-week period, according to a study published online Aug. 29 ...
Sep 1, 2022
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Beyond neurons: How cells called astrocytes contribute to brain disorders
Neurons often get most of the credit for keeping our brains sharp and functioning—as well as most of the blame when it comes to brain diseases. But star-shaped cells called astrocytes, another abundant cell in the human brain, ...
Aug 30, 2022
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Researchers identify new disorder of copper metabolism, caused by variants in CTR1 gene
Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper ...
Aug 18, 2022
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