Rare diseases—those that affect fewer than one in 200,000 people—are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the ...
Feb 10, 2015
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Diseases caused by genetic mutations in the mitochondria – the powerhouses of the cell – can be disabling, or even deadly. That is why mitochondrial replacement therapy (MRT), otherwise also known as three-person IVF ...
Feb 2, 2015
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A new study from MIT reveals one reason why people who suffer from chronic inflammatory diseases such as colitis have a higher risk of mutations that cause cancer. The researchers also found that exposure to DNA-damaging ...
Jan 16, 2015
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A new study has identified genetic mutations that cause the heart condition dilated cardiomyopathy (DCM), paving the way for more accurate diagnosis.
Jan 14, 2015
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Researchers at the University of Louisville's James Graham Brown Cancer Center have identified for the first time mutations that destabilize a DNA structure that turns a gene off. These mutations occur at four specific sites ...
Dec 22, 2014
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In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?
Dec 18, 2014
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Next generation sequencing in malignant pleural mesothelioma (MPM) tumors shows a complex mutational setting with a high number of genetic alterations in genes involved in DNA repair, cell survival and cell proliferation ...
Dec 17, 2014
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Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from ...
Dec 2, 2014
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A pioneering cancer drug set to become the first to be approved specifically for inherited cancers could also be used much more widely to treat prostate cancer, a world-leading expert said today.
Nov 5, 2014
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Scientists say they have identified in about 20 percent of colorectal and endometrial cancers a genetic mutation that had been overlooked in recent large, comprehensive gene searches. With this discovery, the altered gene, ...
Oct 26, 2014
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