Investigators at the National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function. Symptoms of this ...
Jan 11, 2012
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An international team of scientists led by a Cedars-Sinai researcher has identified a new genetic mutation that appears to protect people from developing Type 2 diabetes.
Apr 28, 2015
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New research indicates that colorectal cancer diagnosed at an early age has clinical and genetic features that are different from those seen in traditional colorectal cancer diagnosed later in life. Published early online ...
Mar 11, 2019
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Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative ...
Mar 26, 2021
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Columbia University Medical Center (CUMC) and University of Iowa scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition ...
Jan 27, 2016
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Current thinking about Parkinson's disease is that it's a disorder of mitochondria, the energy-producing organelles inside cells, causing neurons in the brain's substantia nigra to die or become impaired. A study from Children's ...
Nov 10, 2011
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A team of researchers has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. Dopamine is the neurotransmitter that sends messages to the part of the brain that ...
Nov 27, 2013
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Scientists at the University of California, Berkeley, have engineered a new way to deliver CRISPR-Cas9 gene-editing technology inside cells and have demonstrated in mice that the technology can repair the mutation that causes ...
Oct 3, 2017
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Johns Hopkins Medicine researchers have mapped out the cellular pathway that connects the most common genetic mutation associated with Parkinson's disease to brain cell death. In a new study, they show that the mutation initiates ...
Oct 27, 2020
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Zika virus infection during pregnancy was first linked to birth defects during the outbreak in the Americas in 2015 and 2016; however, the Zika virus was discovered decades ago. Why then were adverse outcomes during pregnancy ...
Apr 19, 2019
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