Children with life-limiting rare diseases and their caregivers face tremendous stress and anxiety about the heart-breaking decisions before them. A new intervention—designed at Children's National Hospital to support the ...
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In an article published in Nature, researchers from Karolinska Institutet present an atlas of the early development of the brain. The atlas can be used, among other things, to find out what went wrong in the development of ...
May 2, 2024
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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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A new study led by Indiana University School of Medicine researchers has found that a brain network condition called "explosive synchronization" could be the cause of extreme pain crises in people with sickle cell disease.
Apr 24, 2024
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A small team of medical workers and researchers in the U.S. has published a case study of two men, both deer hunters, who developed a rare prion disease. In their study, published in the journal Neurology, the group describes ...
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. HGPS is characterized ...
Apr 22, 2024
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Natural history studies serve as an important standard in medical research because they analyze demographic, genetic, environmental and other variables to better understand how a disease develops and its clinical outcomes.
Apr 22, 2024
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Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile ...
Apr 19, 2024
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Most rare diseases are congenital—including CPAM (congenital pulmonary airway malformations). These are airway malformations of the lungs that can lead to severe breathing problems in some affected newborns and can be associated ...
Apr 16, 2024
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Inside the brains of people with psychosis, two key systems are malfunctioning: a "filter" that directs attention toward important external events and internal thoughts, and a "predictor" composed of pathways that anticipate ...
Apr 11, 2024
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