Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 2023
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Overcrowded housing, high rates of tobacco exposure, poor vaccination uptake and damage after severe respiratory infection in infancy: these are some of the reasons that are sometimes suggested to explain why indigenous children ...
Apr 24, 2023
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Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.
Apr 12, 2023
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Researchers from Children's Hospital of Philadelphia (CHOP) and Drexel University were able to analyze 53 million patient notes from more than 1.5 million individual patients to identify similarities in their medical histories ...
Apr 6, 2023
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Providing an overview of the submissions process and examples of U.S. Food and Drug Administration (FDA) applications for Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPDD), a new article can help ...
Mar 27, 2023
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Statins are the most commonly used medication in lowering blood cholesterol, prescribed to tens of millions in the Western world. Statins act through inhibition of the enzyme HMG CoA reductase. Nearly 20% of statin users ...
Mar 21, 2023
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Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic ...
Mar 16, 2023
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The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University ...
Mar 6, 2023
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Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine.
Feb 10, 2023
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Only one in 100,000 people suffer from a pheochromocytoma, a tumor of the adrenal gland. If the tumor has already metastasized, a radioactive compound can be used to detect malignant cells that have spread to other parts ...
Feb 9, 2023
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