Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 2023
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Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down syndrome.
Apr 26, 2023
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Among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and ovarian cancer (HBOC) or Lynch syndrome, 39.2% would not have qualified for genetic ...
Apr 18, 2023
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Alagille syndrome, a genetic disease estimated to affect 1 in 30,000 individuals, is caused by mutations in the gene JAG1 in most cases. The mutations affect multiple organs including the liver where it often results in cholestasis, ...
Apr 7, 2023
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Increasing use of genetic testing means people may discover they have a gene variant associated with some types of cardiovascular disease (CVD). A new scientific statement, published today in the American Heart Association ...
Mar 27, 2023
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Those with Usher Syndrome—the leading hereditary cause for simultaneous deafness and blindness, for which there is no treatment—may have a new reason for hope now that researchers have confirmed the first-ever nonhuman ...
Feb 11, 2023
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In 2022, an estimated 7,000 Canadians were diagnosed with leukemia, a term used to define cancer of the blood cells. Of that 7,000, it is estimated that nearly half will face mortality. University of Saskatchewan (USask) ...
Feb 7, 2023
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People with an additional X or Y chromosome—a genetic condition known as supernumerary sex chromosome aneuploidy—have an increased risk of developing blood clots known as venous thromboembolism (VTE), a Geisinger study ...
Jan 25, 2023
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About 13,200 men and another 2,300 women in the United States over age 50 are estimated to have VEXAS syndrome, according to a new study. Long considered a mystery illness until its genetic basis was identified in 2020, the ...
Jan 24, 2023
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Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...
Jan 20, 2023
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