Genetic test could aid quest to reveal causes of rare diseases
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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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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Working in a highly successful collaboration between the Centre for Cancer Biology (a University of South Australia and SA Pathology alliance), the University of Adelaide, and the Women's and Children's Hospital, UniSA Ph.D. ...
Dec 16, 2019
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Rare diseases are anything but rare when taken together. In the United States alone, they affect nearly 30 million people. Yet clinical trials for rare diseases are frequently incomplete or go unpublished in the medical literature, ...
Dec 4, 2019
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Thousands of rare diseases cumulatively affect millions of people across the globe, yet because each case is so rare doctors struggle to accurately diagnose and effectively treat individual patients. Every time a patient ...
Nov 26, 2019
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Parents usually know their child better than anyone, and if a parent suspects something is wrong, it probably is.
Nov 19, 2019
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Progeria is a very rare disease that affects about one in 18 million children and results in premature aging and death in adolescence from complications of cardiovascular disease. In a study on mice and human cells, researchers ...
Nov 18, 2019
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Scientists at the University of Sheffield, working in collaboration with drug and vaccine developer Kymab Ltd, Cambridge, have identified a novel antibody that has the potential to become a new treatment for pulmonary arterial ...
Nov 15, 2019
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Calcium ions are essential to how muscles work effectively, playing a starring role in how and when muscles contract, tap energy stores to keep working and self-repair damage. Not only are calcium ions vital for the repair ...
Oct 31, 2019
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Rare diseases represent a global problem. Until now, the lack of data made it difficult to estimate their prevalence. Created and coordinated by Inserm, the Orphanet database contains the largest amount of epidemiological ...
Oct 24, 2019
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Each year, heart attacks kill almost 10 million people around the world, and more than 6 million die from stroke. A heart attack is caused by clots that block arterial blood flow. Tissues are deprived from blood-borne oxygen. ...
Oct 15, 2019
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