Increasingly, the words "genetics" and "genome" are making their way into news stories about health and medicine. Doctors talk about scientific research—how there may be links between gene mutations in your DNA and an increased ...
Jan 28, 2019
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St. Jude Children's Research Hospital has re-defined the gold standard for diagnostic testing of childhood cancer patients in the precision-medicine era and has implemented the testing for new cancer patients. The findings ...
Oct 12, 2018
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(HealthDay)—About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according ...
Dec 5, 2017
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About eight years ago, a doctor in Turkey examined a 5-month-old boy for "failure to thrive and dehydration." Paradoxically, his diapers were wet, so the medical team was inclined to suspect Bartter syndrome, a congenital ...
Nov 15, 2017
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(HealthDay)—Clinical exome sequencing is an effective diagnostic tool for infants suspected of having monogenic disorders, according to a study published online Oct. 2 in JAMA Pediatrics.
Oct 3, 2017
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When Audrey Lapidus' 10-month old son, Calvin, didn't reach normal milestones like rolling over or crawling, she knew something was wrong.
Jul 19, 2017
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Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes - providing new insights into their causes, and new recommendations for genetic testing.
May 4, 2017
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Early results from the BabySeq Project, a Boston-based study exploring the impact of whole-exome sequencing (WES) on newborn infants and their families, suggest some utility in genetically sequencing these infants and offer ...
Oct 19, 2016
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(HealthDay)—More than one-quarter of Canadian and Alaskan Inuit have the TBC1D4 mutation resulting in elevated postprandial glucose, and those with prediabetes and type 2 diabetes have increased risk of remaining undiagnosed, ...
Aug 31, 2016
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Whole exome sequencing has revealed a novel mechanism and potential target for treating peripheral neuropathy, a condition that afflicts millions of people in the United States alone.
Aug 3, 2016
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