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<p>In a study that spans more than a decade, researchers at Baylor College of Medicine have looked at generations of families in a specific population to reveal the role newly inherited DNA variants play on recessive disease traits, and in the process, they have created a population specific database revealing unique DNA information unseen in larger cohorts.</p> ....
Evenings with Genetics: new therapies for genetic conditions miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach. The study, published in JAMA Network Open, shows that untargeted metabolomics identifies many more disorders of greater variety as compared to traditional methods, including disorders for which there was not a clinically available biochemical test. The researchers hope that adoption of metabolomics to screen for inborn errors of metabolism will result in a more rapid, more efficient and less expensive diagnostic journey for individuals and families with rare metabolic disorders. ....
Novel screening approach improves diagnosis of metabolic disorders in newborns miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
Novel screening approach improves diagnosis of metabolic disorders in newborns eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.