University of Texas Medical Branch at Galveston researchers have developed a powerful visual analytical approach to explore genetic data, enabling scientists to identify novel patterns of information that could be crucial ...
Jun 12, 2012
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Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.
Dec 15, 2011
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In the largest study of its kind to date, Stanford University School of Medicine researchers have shown that women related to a patient with a breast cancer caused by a hereditary mutation -- but who don't have the mutation ...
Oct 31, 2011
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Published in the American Journal of Medical Genetics, a University of Minnesota Medical School study found that it is normal for children with Fanconi anemia to be shorter and thinner than other children. Fanconi anemia ...
Feb 26, 2024
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The importance of accurate prenatal diagnosis in preventing birth abnormalities cannot be overstated. Traditional karyotyping (a test to examine chromosomes in a sample of cells) dates back to the late 1960s and is well-established, ...
Oct 26, 2023
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One of the world's largest studies on the impact of cholesterol-lowering medication has highlighted an issue with a new class of drugs that could impair lung function in some patients.
Jul 20, 2023
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A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech ...
Mar 29, 2023
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Nine in 10 Australians would participate in preventive DNA screening for risk of medically actionable conditions, a new national survey has found.
Dec 1, 2022
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As published in the Journal of the American Medical Informatics Association, University of Minnesota researchers led a study evaluating federated learning variations for COVID-19 diagnosis in chest X-rays. Federated learning ...
Nov 17, 2022
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Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of the first clinical guideline aimed at health care professionals and families of children affected ...
Oct 26, 2022
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