Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been ...
Jun 5, 2023
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The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism. Rare inherited mutations in the ECHS1 lead to mitochondrial ECHS1 deficiency, ...
May 18, 2023
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A new type of developmental disability caused by mutations in a gene known as CBX1 has been discovered by a UT Southwestern Medical Center researcher and his colleagues. The findings, reported in Genetics in Medicine, offer ...
May 17, 2023
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For two decades, scientists have been comparing every person's full set of DNA they study to a template that relies mostly on genetic material from one man affectionately known as "the guy from Buffalo."
May 14, 2023
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Hypertension is a cardiovascular disease that seriously threatens global public health. Early and effective control of blood pressure can prevent the occurrence of target organ damage and cardiovascular complications.
May 12, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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An exhaustive cost-benefit analysis of population genetic testing published in Annals of Internal Medicine concludes with a recommendation to U.S. health policymakers to adopt routine testing of adults ages 40 and under for ...
May 8, 2023
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According to Australian guidelines, women with newly diagnosed breast cancer should be offered genetic testing when they meet certain strict criteria—such as being diagnosed at a very young age or if many family members ...
May 4, 2023
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Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. ...
May 3, 2023
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New research out of the University of Cincinnati examines the association between genetics and the presence of opioid use disorder (OUD). The study identified six single nucleotide polymorphisms (SNPs) or genetic variants ...
Apr 27, 2023
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