While subtle differences in the number of genes copied from one individual and passed down to the next can be found in many healthy people, their role in disease may be much greater than previously thought.
Jan 14, 2020
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One might think that the primary cause of most genetically linked diseases comes from mutations in coding DNA—alterations in coding regions of the genome that can lead directly to changes in the expression of particular ...
Nov 15, 2019
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About one in 8,000 people have facioscapulohumeral muscular dystrophy, according to a 2014 study, which is relatively common in the world of genetic diseases. New University of Minnesota Medical School research identifies ...
Sep 11, 2019
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A team at Ludwig-Maximilians-Universitaet (LMU) in Munich has uncovered a mechanism behind the variability in the clinical course of Ewing sarcoma. The interaction between the acquired driver mutation and the germline genetic ...
Sep 11, 2019
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Genome-wide association studies (GWASs) have identified hundreds of genetic "risk" variants for human cancers. The vast majority likely contribute to cancer development by regulating the expression of other genes, but these ...
Sep 2, 2019
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KAIST medical scientists have developed an advanced method for perfectly detecting low-level somatic mutation in patients with intractable epilepsy. Their study showed that deep sequencing replicates of major focal epilepsy ...
Aug 14, 2019
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Neuroblastoma accounts for 15% of total childhood cancer deaths. The survival rate of high-risk neuroblastoma patients is 50%.
Jul 26, 2019
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It is a remarkable proof for the concept of IOB: working closely hand in hand, our molecular and clinical researchers have developed a library of 230 adeno associated viral vectors (AAVs), each with a different synthetic ...
Jul 19, 2019
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A consortium of researchers led by Georgetown Lombardi Comprehensive Cancer Center investigators have completed the largest analysis of a new gene fusion they believe is responsible for development of a wide spectrum of cancer ...
Apr 15, 2019
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New information is unfolding on the genetic controls of an early turning point in pregnancy. As the tiny, dividing cell mass, the blastocyst, travels from the oviduct and lodges in the wall of the uterus, the cells must exit ...
Feb 7, 2019
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