Severe combined immunodeficiencies (SCIDs) are a group of debilitating primary immunodeficiency disorders, primarily caused by genetic mutations that disrupt T-cell development. SCID can also affect B-cell and natural killer ...
Oct 27, 2023
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Researchers from the Icahn School of Medicine at Mount Sinai have applied a novel stem cell model to map disease risk variants in human neurons, which could help provide insights into the biological mechanisms that underlie ...
Jun 1, 2022
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St. Jude Children's Research Hospital scientists have developed an integrated, high-throughput system to better understand and possibly manipulate gene expression for treatment of disorders such as sickle cell disease and ...
May 6, 2021
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In the largest study of its kind, genetic changes causing neurodevelopmental disorders have been discovered by scientists at the Wellcome Sanger Institute and their collaborators in the NHS Regional Genetics services. The ...
Mar 21, 2018
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Researchers have developed a method to swiftly screen the non-coding DNA of the human genome for links to diseases that are driven by changes in gene regulation. The technique could revolutionize modern medicine's understanding ...
Apr 3, 2017
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Recent investigations have shown that our genome and those of other mammals is partitioned into large functional units called topologically associated domains, or TADs for short. TADs are very long DNA sections containing ...
May 13, 2015
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(Medical Xpress)—Researchers at the Wellcome Trust Sanger Institute and University of Cambridge have unpicked genetic variants that affect the formation of blood cells. They found that around a third of the variants play ...
Apr 17, 2013
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Scientists at Karolinska Institutet in Sweden and the University of Helsinki in Finland have shown that the "switches" that regulate the expression of genes play a major role in the development of cancer. In a study, published ...
Nov 1, 2012
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Changes to just three genetic letters among billions led to evolution and development of the mammalian motor sensory network, and laid the groundwork for the defining characteristics of the human brain, Yale University researchers ...
May 30, 2012
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Researchers have developed a new strategy to improve the outcome of genome-wide association (GWA) studies.
Jun 30, 2011
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