Tick-borne Powassan virus can kill. What is it, and how can you protect yourself?
Robert Weymouth, 58, of Portland, Maine, died this year because of a tick bite.
May 25, 2023
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Robert Weymouth, 58, of Portland, Maine, died this year because of a tick bite.
May 25, 2023
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Rare diseases are often caused by defects in genetic material. If children inherit a defective gene from only one parent, they often are asymptomatic "carriers"—or at least that was the previous assumption. However, a research ...
May 23, 2023
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A current monitoring of the Austrian Institute for Health Technology Assessment (AIHTA) shows that the member companies of PHARMIG have disclosed their financial contributions to patient initiatives significantly more often ...
May 22, 2023
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The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism. Rare inherited mutations in the ECHS1 lead to mitochondrial ECHS1 deficiency, ...
May 18, 2023
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Researchers in the Department of Biomedical Informatics (DBMI) at the University of Colorado School of Medicine have reached a major milestone in developing standards and tools for creating phenopackets that may foster more ...
May 17, 2023
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Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical ...
May 16, 2023
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Mice with a defective human gene responsible for a rare genetic disease called congenital adrenal hyperplasia, have been developed for the first time. The achievement, presented at the 25th European Congress of Endocrinology, ...
May 15, 2023
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Britain's fertility regulator on Wednesday confirmed the births of the U.K.'s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic ...
May 10, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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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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