The first study to report use of the rheumatoid arthritis drug anakinra to treat COVID-19 patients found that high-dose anakinra was safe and was associated with respiratory improvements and reduced signs of cytokine storm ...
May 8, 2020
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The Sanfilippo syndrome type C is a severe neurodegenerative disease which appears during the first years of life and for which there is no treatment yet. A recent study, published in Journal of Clinical Medicine, has created ...
Apr 24, 2020
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Nagano prefecture is home to a group of people affected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies (FAP). This disease impacts the gene encoding protein transthyretin (TTR) which ...
Apr 3, 2020
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Facing public criticism, the maker of a promising coronavirus drug said Wednesday it will waive a special regulatory designation that could have allowed it to block competition and boost profits for its treatment.
Mar 25, 2020
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The number of treatments for rare diseases affecting children has increased, a new study suggests. But federal incentives intended to encourage drug development for rare conditions are being used more often to expand the ...
Mar 3, 2020
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Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by the Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called the striatum. A research group led by Dr. ...
Feb 28, 2020
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All biological cells are bounded by a lipid bilayer known as the plasma membrane. In addition, the cells of higher organisms contain specialized intracellular membrane compartments, which interact with each other and with ...
Feb 27, 2020
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A research team has described five new cases of a rare disease known as KAT6A syndrome, of which there are only 80 dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine ...
Feb 26, 2020
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You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.
Feb 26, 2020
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The IDIBELL Neurometabolic Diseases group, with international collaboration, has identified a model of chromosome X-linked adrenoleukodystrophy (X-ALD) in C. elegans. X-ALD is a rare disorder of the nervous system with no ...
Feb 20, 2020
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