Skin rash combined with head and joint pain are the symptoms that patients with familial (hereditary) cold urticaria develop when exposed to temperatures below 15 °C. Researchers from Charité - Universitätsmedizin Berlin ...
Apr 28, 2020
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A link has been discovered between a common gene defect and eczema, nasal blockage and wheeze among babies as young as six months, according to a new study at Brighton and Sussex Medical School (BSMS). The research ...
Apr 28, 2020
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Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
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You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.
Feb 26, 2020
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Biomedical scientists at KU Leuven have discovered that a defect in the ATP13A2 gene causes cell death by disrupting the cellular transport of polyamines. When this happens in the part of the brain that controls body movement, ...
Jan 30, 2020
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Researchers at Harvard Medical School and the New York State Department of Health have discovered how a common plasticizer associated with human reproductive abnormalities likely does its damage at the molecular level.
Jan 9, 2020
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Scientists at Tufts University have identified a molecular mechanism that could reverse the genetic defect responsible for Friedreich's ataxia, a neurodegenerative disease that leaves its victims with difficulty walking, ...
Jan 6, 2020
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The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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A blood test can help identify rare mutations in advanced breast cancer, which may enable patients to access effective treatments more quickly in the future, Cancer Research UK scientists have found.
Dec 13, 2019
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Officials from Vertex Pharmaceuticals and CRISPR Therapeutics have announced that preliminary results from testing CRISPR gene-editing treatment in human patients with blood disorders show promise thus far. The joint project ...
