Reviewed by Emily Henderson, B.Sc. Mar 27 2023 Increasing use of genetic testing means people may discover they have a gene variant associated with some types of cardiovascular disease (CVD). A new scientific statement, published today in the American Heart Association journal Circulation: Genomic and Precision Medicine, aims to help individuals and health care professionals...
Tag: <span>gene variants</span>
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Gene variants linked to cerebral arachnoid cysts overlap with developmental disorders, autism, and epilepsy
by Justin Jackson, Medical Xpress Graphical summary of the methodological framework of the study. Credit: Nature Medicine (2023). DOI: 10.1038/s41591-023-02238-2 The most common type of brain cyst (arachnoid) has no known cause. New research investigating patients with these cysts has found something unexpected—a potential genetic link. A team led by Yale University School of Medicine has gathered health history and exome...
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Optimal genome mapping offers high-resolution method to better see, then target cancer-causing gene variants
by Medical College of Georgia at Augusta University Dr. Ravindra Kolhe. Credit: Michael Holahan, Augusta University Technology that enables an unprecedented, high-resolution look for all structural variants in our genes that are known to cause cancer can outperform standard tests used today for common blood cancers like leukemia, researchers report. It’s called optical genome mapping, or OGM,...
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Researchers map activity of inherited gene variants linked to prostate cancer
by UT Southwestern Medical Center Credit: Pixabay/CC0 Public Domain UT Southwestern researchers have identified the molecular function of 87 inherited genetic variants that affect the risk of prostate cancer, and the majority appear to control the activity of genes located far away from the risk variants themselves. The findings, published in Cancer Discovery, could lead to better ways...
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Research links gene variants to medication-induced fatal brain infection
by Emerald Lake Safety Credit: Pixabay/CC0 Public Domain New research has confirmed a strong link between four genetic mutations and progressive multifocal leukoencephalopathy (PML), a rare but often fatal brain infection that can be triggered by dozens of FDA-approved drugs. The research, published in Frontiers in Neurology on December 14, will allow doctors to screen...
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Gene variants may affect length of survival in Parkinson’s patients, new study shows
EMOTIVE (Vienna, Sunday, 26 June 2022) How long someone lives with Parkinson’s disease may be down to specific gene mutations, according to new research presented today at the 8thEuropean Academy of Neurology (EAN) Congress.1 Scientists from four institutes in Paris, including the prestigious Paris Brain Institute at the Sorbonne Université, studied the records of 2,037...
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A path to promising treatments for schizophrenia through gene variants
by Indrani Mukherjee, Broad Institute of MIT and Harvard Morgan Sheng, core institute member and co-director of the Stanley Center for Psychiatric Research, is studying the function of genes linked to schizophrenia. Credit: Maria Nemchuk, Broad Communications Over the last 15 years, researchers at the Stanley Center for Psychiatric Research at the Broad Institute of...
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Gene variants related to controlling body weight isolated
by Bob Yirka , Medical Xpress Credit: CC0 Public Domain A large team of researchers affiliated with multiple institutions across the U.S. and several other countries, working with Regeneron Genetics Center, has isolated several gene variants that play a role in body weight control. In their paper published in the journal Science, the group describes how they isolated...
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Could Your Hemoglobin A1C Test Be Wrong?
Sharon Orrange, MD, MPHDr. Orrange is an Associate Professor of Clinical Medicine in the Division of Geriatric, Hospitalist and General Internal Medicine at the Keck School of Medicine of USC.Posted on July 2, 2020 The preferred way to screen for diabetes is with an A1C test. It’s easily done with a fingerstick in your doctor’s...
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B-cell protectors
MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE IN THE HELMHOLTZ ASSOCIATION THE PROTEIN PDAP1 (RED) IS LOCATED IN THE CYTOPLASM OF B CELLS. view more CREDIT: DI VIRGILIO, MDC Whenever a germ gets into the human body, the immune system usually responds immediately to fight off the enemy attacker. One of our defense system’s most important...
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