In a paper published today in the American Journal of Human Genetics, a group of international collaborators led by researchers from the University of Pittsburgh School of Medicine identified new genetic associations that ...
Dec 11, 2020
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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Researchers say a machine learning tool can identify many patients with rare, undiagnosed diseases years earlier than current methods, potentially improving outcomes and reducing cost and morbidity. The findings, led by researchers ...
May 1, 2024
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An unexplained case of severe coronary artery disease in a seemingly healthy young man led scientists at The Ohio State University Wexner Medical Center and College of Medicine to a discovery that could lead to a new way ...
Aug 31, 2022
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Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously ...
Feb 13, 2012
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In 2015, then President Barack Obama launched a precision medicine initiative, saying that its promise was "delivering the right treatments, at the right time, every time to the right person." A biomedical engineer at Washington ...
Dec 19, 2018
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Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.
Jul 2, 2012
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Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
Jul 10, 2017
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Within our brain cells, there exists a highway system of tube-like structures called microtubules. They give the cell structure and help transport nutrients and other important substances from one part of the nerve cells ...
Jan 16, 2024
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Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates?
Dec 6, 2011
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