Weill Cornell Medicine researchers are using machine learning, a form of artificial intelligence, to shed light on genetic mutations associated with spina bifida. In this birth defect, the neural tube that forms the spinal ...
Dec 20, 2021
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45
Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are chronic inflammatory diseases of unknown origin. While genetics was shown to contribute to IBD risk, only a minority of people carrying ...
Nov 8, 2021
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Researchers identified almost two dozen genes that contribute to heart defects by studying genetic data from people born with congenital heart disease or autism. Hongyu Zhao of Yale University and colleagues developed a new ...
Nov 4, 2021
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Huntington's disease is a fatal condition involving the death of brain cells, typically striking in midlife. But new findings suggest the disease process starts decades earlier. Although symptoms emerge in adulthood, researchers ...
Oct 5, 2021
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Hundreds of cancer-linked genes play a different role in causing disease than scientists had expected.
Sep 16, 2021
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51
In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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18
A new study from Tel Aviv University (TAU) presents an innovative treatment for deafness, based on the delivery of genetic material into the cells of the inner ear. The genetic material "replaces" the genetic defect and enables ...
Dec 23, 2020
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172
Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
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203
In experiments with rats, pigs and monkeys, Johns Hopkins Medicine researchers have developed a way to deliver sight-saving gene therapy to the retina. If proved safe and effective in humans, the technique could provide a ...
Sep 30, 2019
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284
U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby's muscle control and kills nearly all of those with the most common type of the disease within a couple of years.
May 24, 2019
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