Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative ...
Mar 26, 2021
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Prior to the emergence of new mutants of the coronavirus, such as the British variant B.1.1.7, the SARS-CoV-2 variant named D614G had already mutated from the original SARS-CoV-2 pathogen that triggered the pandemic. D614G ...
Feb 26, 2021
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Primary sclerosing cholangitis, or PSC, is a rare chronic inflammatory disease of the bile ducts. It normally debuts in young adults and two thirds of patients are men. In most cases, the patient also has an inflammatory ...
Feb 25, 2021
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Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood. A form of Leber congenital amaurosis, the disease is caused by ...
Jan 28, 2021
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Many genetic mutations have been found to be associated with a person's risk of developing Parkinson's disease. Yet for most of these variants, the mechanism through which they act remains unclear.
Jan 27, 2021
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A study led by researchers at the National Institutes of Health has made a surprising connection between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two disorders of the nervous system, and the ...
Dec 4, 2020
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A team of LSU Health New Orleans researchers reports for the first time that deleting one of the inhibitors of the RPE65 gene in a mouse model that carries a human disease mutation prevents degeneration of cone photoreceptors ...
Dec 1, 2020
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A new genetic risk factor for Motor Neurone Disease (MND), which if treated could halt or prevent the degenerative condition, has been identified in so-called 'junk DNA' by scientists at the University of Sheffield. The newly ...
Dec 1, 2020
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For the first time, researchers have successfully created airway basal stem cells in vitro from induced pluripotent stem cells by reprogramming blood cells taken from patients. Given that airway basal cells are defined as ...
Oct 23, 2020
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A breakthrough study, led by researchers from the University of California, Irvine, results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease.
Oct 19, 2020
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