Researchers at Washington University School of Medicine in St. Louis are investigating whether a drug approved by the Food and Drug Administration (FDA) to treat rare diseases of an overactive immune system could help critically ...
Aug 17, 2020
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Structures called primary cilia—which act like TV antennas for cells to detect signals—are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science ...
Jul 30, 2020
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An extensive international study led by Prof. Illana Gozes of Tel Aviv University's Department of Human Molecular Genetics and Biochemistry found deposits of the tau protein typically found in Alzheimer's patients in tissues ...
Jul 28, 2020
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Approximately 5% of people with Covid-19 progress to a severe or critical form, including the development of severe pneumonia that progresses to acute respiratory distress syndrome. While these forms sometimes occur early ...
Jul 17, 2020
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Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings ...
Jul 16, 2020
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Mount Sinai researchers have for the first time identified reproductive and metabolic subtypes of polycystic ovary syndrome (PCOS) that are associated with novel gene regions. The findings, which used clustering of clinical, ...
Jun 23, 2020
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Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
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Atop exercise researcher at the University of Virginia School of Medicine is urging clinical trials of exercise in patients with Friedreich's ataxia after finding that physical activity has a "profound" protective effect ...
Jun 16, 2020
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Nearly one out of every 10 African Americans has a genetic variant that puts them inherently at an increased risk for ventricular arrhythmias and sudden cardiac death. Writing in the journal Heart Rhythm, the official publication ...
Jun 15, 2020
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Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never ...
Jun 4, 2020
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