Schizophrenia is a neurodevelopmental disorder that disrupts brain activity producing hallucinations, delusions, and other cognitive disturbances. Researchers have long searched for genetic influences in the disease, but ...
Mar 9, 2021
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Scientists at the Broad Institute of MIT and Harvard have found that a set of genetic mutations in blood cells that arises during aging may be a major new risk factor for cardiovascular disease. In contrast to inherited genetic ...
Jun 22, 2017
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Results of a study led by VHIO investigators and published in Nature Medicine have unmasked mutations in the RNF43 gene as predictive biomarkers of response to treatment with anti-BRAF/EGFR combinatory therapy in patients ...
Sep 27, 2022
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A single genetic mutation can lead to completely different diseases, depending on the time and location at which the mutation occurs. This finding emerged from the PhD study conducted by Rocio Acuña-Hidalgo of Radboudumc. ...
Jun 30, 2017
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Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly ...
Jun 24, 2012
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The algorithm, called Hotnet2, was used to analyze genetic data from 12 different types of cancer assembled as part of the pan-cancer project of The Cancer Genome Atlas (TCGA). The research looked at somatic mutations—those ...
Dec 15, 2014
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A study that examined 17 million mutations in the genomes of 650 cancer patients concludes that large differences in mutation rates across the human genome are caused by the DNA repair machinery.
Feb 23, 2015
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Clonal hematopoiesis is a biological process in which a blood stem cell (the population that gives rise to a variety of blood cell types) acquires an advantageous mutation and outgrows neighboring cells. Clonal hematopoiesis ...
Aug 2, 2022
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A team of researchers at Regeneron Pharmaceuticals has identified new genomic variants associated with clonal hematopoiesis of indeterminate potential (CHIP).
A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers ...
Jan 21, 2015
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