In laboratory experiments involving a class of mutations in people with a rare collection of immune system disorders, Johns Hopkins Medicine researchers say they have uncovered new details about how immune system cells respond ...
Mar 8, 2022
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Predicting the future may be beyond our grasp, but what about predicting disease progression? Researchers in Japan have delved into the human genome to investigate a predictive tool for the progression of rheumatoid arthritis ...
Mar 7, 2022
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The world's largest study of the genetics of critical COVID-19, involving more than 57,000 people, has revealed fresh details about some of the biological mechanisms behind the severe form of the disease.
Mar 7, 2022
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In a world first discovery, South Australian researchers have identified a genetic mutation responsible for a lymphatic disorder that may cause stillbirth or severe, chronic disease in affected children.
Mar 2, 2022
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Broad scientists analyzed sequencing data from more than 200,000 people and found rare genetic variants associated with diseases like diabetes and heart failure.
Feb 23, 2022
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Rare diseases constitute a major health issue in Europe: An estimated 30 million people live with one, and of these, 50% have not received a diagnosis. The suffering caused by these disorders, both to patients and the doctors ...
Feb 23, 2022
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The genetic variants we are born with can increase or decrease our risk of falling seriously ill with COVID-19. The major genetic risk variant for severe COVID-19, one we inherited from Neandertals, is surprisingly common. ...
Feb 21, 2022
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Nearly 1 percent of all children are born with congenital heart disease—a range of potentially life-threatening problems with the structure and function of their hearts. For most children, the precise causes of these frightening ...
Feb 18, 2022
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By sequencing known genes associated with cardiac arrhythmia risk in more than 20,000 people without an indication for genetic testing, scientists were able to identify pathogenic and likely pathogenic variants in nearly ...
Feb 10, 2022
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An international team of scientists has used atlases of the human brain informed by genetics to identify hundreds of genomic loci. Loci is plural for locus, and in genetics indicates the physical location of a gene or variant ...
Feb 7, 2022
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