St. Jude Children's Research Hospital investigators have shown that using the drug hydroxyurea to boost average fetal hemoglobin levels above 20 percent in children and teenagers with sickle cell anemia was associated with ...
Nov 9, 2017
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A unique collaboration among Shriners Hospital for Children – Canada, CHU Sainte-Justine and McGill University has enabled researchers to identify genetic mutations involved in a rare disease that causes scoliosis and bone ...
Nov 3, 2017
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Scientists at the University of California, Berkeley, have engineered a new way to deliver CRISPR-Cas9 gene-editing technology inside cells and have demonstrated in mice that the technology can repair the mutation that causes ...
Oct 3, 2017
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The human population carries around more deadly genetic diseases than would be expected based on a simple comparison of mutation rates and deaths of affected individuals. Carlos Eduardo Guerra Amorim of Stony Brook University ...
Sep 28, 2017
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In a study published this month in Hepatology, a multinational team of researchers describes a newly identified cause of congenital diarrhea and liver disease in children.
Sep 28, 2017
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Physicians are increasingly using genetic testing to unravel mysterious or rare diseases in patients with baffling symptoms. But untangling mystifying symptoms is only half the battle. The next frontier in genomic analysis ...
Sep 12, 2017
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A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, ...
Aug 30, 2017
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Macquarie University researchers have developed the first zebrafish model of the neurodegenerative Machado-Joseph Disease – and have used this model to test drugs that could potentially be used to treat the disease, which ...
Aug 11, 2017
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Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
Jul 10, 2017
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Between 15 and 20 percent of black people carry a genetic mutation that puts them at risk for certain chronic kidney disease, but only about half of them develop the illness - a variance that long has puzzled researchers. ...
Jun 26, 2017
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