(Medical Xpress) -- A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.
May 18, 2012
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Do you run when you should stay? Are you afraid of all the wrong things? An enzyme deficiency might be to blame, reveals new research in mice by scientists at the University of Southern California.
Aug 10, 2011
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First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health (NIH), CHARGE syndrome is ...
May 7, 2024
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The results of a multisite clinical trial overseen by University of Colorado Cancer Center member Bradley Corr, MD, could offer new hope to patients with metastatic and recurrent uterine cancer, also known as endometrial ...
Mar 20, 2024
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Researchers at the University of Michigan have developed a model for studying one type of familial epilepsy, opening the door to understanding—and eventually targeting—the mechanisms that lead to the disorder and its ...
Sep 25, 2023
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Next-generation cancer strategies rely on next-generation gene sequencing (NGS), which paves the way for new techniques and tools to detect mutations and determine patient therapy. A team of Chinese researchers proposed a ...
Feb 1, 2023
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October 14, 2020) Researchers have used insight from a comprehensive genomic analysis of neuroblastoma to learn about the process driving one of the most common childhood solid tumors. The findings revealed possible approaches ...
Oct 15, 2020
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Since COVID-19 began its menacing march across Wuhan, China, in December 2019, and then across the world, the SARS-CoV-2 virus has taken a "whatever works" strategy to ensure its replication and spread. But in anew study ...
Aug 26, 2020
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One of the biggest challenges facing scientists, public health experts, and society itself during the COVID-19 crisis is the need to develop an effective vaccine for the virus that causes the disease.
Apr 10, 2020
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Supercharging the mutation rate in cancer cells can create a powerful vaccine that is able to boost the effectiveness of immunotherapy, a major new study reports.
Feb 7, 2020
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