Most babies who are born with arginase deficiency—a rare genetic disease that leads to the accumulation of the amino acid arginine in the blood—don't have symptoms at first. By the time they're toddlers, however, their ...
Sep 10, 2019
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Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is a fatal genetic disease for which there is unfortunately no cure. Now, scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and Puerta ...
Sep 5, 2019
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Alpacas aren't the typical animals that drivers spot as they wind their way through rural Tennessee, but there's a happy herd of them outside Waverly, where they eat the finest pellets, walk up and down a scenic hill and ...
Aug 14, 2019
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Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) and the University of Barcelona (UB) have described the ability of an inhibitor of the PI3Kα (BYL719) to block the ectopic bone formation in mice. This ...
Aug 2, 2019
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Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
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An individual's genetic makeup, or genome, can reveal important and intimate details of his or her biology. Now, scientists are showing that RNA, the lesser-known molecular cousin of DNA, is powerful in its own right and ...
Jun 20, 2019
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Every year, around a half-million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming. In a study of 679 patients with 105 rare diseases, scientists ...
Jun 6, 2019
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The team under Professor Tom Lenaerts (VUB-ULB) of the IB² has developed an AI algorithm that makes it possible to identify combinations of genetic variants or abnormalities that cause rare diseases through computer analysis. ...
Jun 5, 2019
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In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
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Congenital hepatic fibrosis (CHF) is a rare genetic disease that causes malformation and fibrosis (scarring) of the liver. Occurring in roughly one out of every 20,000 births, CHF can lead to an enlarged liver, impaired blood ...
May 8, 2019
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