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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Obesity is associated with an increased risk of developing female reproductive disorders, however, the roles and mechanisms of obesity in the cause(s) of reproductive conditions are unclear. A study publishing February 1st ...
Feb 1, 2022
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New research from Washington University School of Medicine in St. Louis has solved the medical mystery of why a 2-year-old child—seemingly healthy at birth—succumbed to an undiagnosed, rare illness. The research team ...
Jan 31, 2022
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A new analysis has uncovered a potential link between higher prostate cancer risk and genetic variants associated with higher bloodstream levels of the cholesterol-transporting molecule lipoprotein A. Anna Ioannidou of Imperial ...
Jan 27, 2022
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A new risk score can identify men and women under age 50 most likely to develop a cancer of the colon or rectum, an international study shows.
Jan 27, 2022
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