Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors ...
Nov 15, 2018
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Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and ...
Nov 7, 2018
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University of Otago researchers have helped characterise a genetic variant that enables new understanding of why some people are at risk of gout, a painful and debilitating arthritic disease.
Sep 12, 2018
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Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy ...
Aug 28, 2018
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The human genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication ...
Jul 23, 2018
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Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy that affects multiple organ systems. People with this condition develop progressive muscle wasting and weakness in their lower legs, hands, ...
Jun 26, 2018
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Mucolipidosis IV debilitates afflicted children's nervous systems in their first year of life, steals their eyesight in their teens and takes their lives in their twenties, and so far, there is no therapy to fight it. Now, ...
May 29, 2018
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A new study by scientists in Australia and the US provides an explanation for why clinical trials of drugs targeting proteins in the brain that were thought to cause dementia and Alzheimer's have failed. The study has opened ...
May 2, 2018
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A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to identify the changes in the proteins altered by the UBE3A enzyme, which is responsible for Angelman ...
Apr 20, 2018
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Glaucoma—the leading cause of vision loss worldwide—includes a heterogeneous group of disorders. Primary open-angle glaucoma (POAG) and exfoliation glaucoma (XFG) are linked to decreased outflow of aqueous humor, which ...
Apr 11, 2018
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