In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model.
Aug 26, 2020
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45
Researchers have investigated the function of a complex mesh of muscle fibers that line the inner surface of the heart. The study, published in the journal Nature, sheds light on questions asked by Leonardo da Vinci 500 years ...
Aug 19, 2020
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Inherited mutations in a gene that keeps nerve cells intact was shown, for the first time, to be a driver of a neuropathy known as Charcot-Marie-Tooth (CMT) disease. This finding is detailed in a study led by researchers ...
Aug 3, 2020
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101
In a new study published today in the journal Nature Medicine, researchers behind the Healthy Nevada Project suggest that community-based genetic screening has the potential to efficiently identify individuals who may be ...
Jul 27, 2020
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84
Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of ...
Jul 24, 2020
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New research is helping unlock the mystery of how the brain folds as a baby develops in the womb—a process critical to healthy brain function.
Jul 1, 2020
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562
Our cells have several ways to repair DNA that breaks when the cells divide. However, genetic mutations can disable these DNA repair mechanisms, destabilize the cells, and trigger cancer. In a paper published today in the ...
Jun 4, 2020
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172
The earliest brain changes due to Huntington's disease can be detected 24 years before clinical symptoms show, according to a new UCL-led study.
May 26, 2020
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155
Researchers from Osaka University have found that high blood pressure and obesity are the strongest factors reducing lifespan based on genetic and clinical information of 700,000 patients in the U.K., Finland and Japan. These ...
Mar 23, 2020
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253
Using a single-needle biopsy and new technology for tumor diagnosis developed by Baylor College of Medicine and the Broad Institute of MIT and Harvard, researchers have been able to provide a more detailed and wider window ...
Jan 27, 2020
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