Cardiology
High blood pressure diagnosis leads to discovery of complex heart issues
Childhood friends Glenda Jennings and Connie Hoffroggy were catching up. They lived in different cities and hadn't seen each other in a while.
Mar 15, 2022
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Page 5 - News tagged with mutation testing
Genetics
Identification of new rare genetic mutation provides answers for families
University of Otago-led research has identified a new rare genetic mutation which will finally give families around the world answers as to what is affecting their loved one.
Mar 9, 2022
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Oncology & Cancer
Mouse study may help doctors choose treatments for leukemia patients
Some genetic mutations linked to leukemia are less than useful guides to making treatment decisions for patients. A new study from the University of Wisconsin–Madison suggests a group of clinical signs that can be paired ...
Feb 22, 2022
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Neuroscience
Novel neurodevelopmental disorder associated with mutations or deletions of PAX5 gene
Researchers led by a team at Baylor College of Medicine have identified a novel neurodevelopmental disorder associated with mutations or deletions affecting a gene called PAX5. Their findings are published in the journal ...
Jan 31, 2022
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Diseases, Conditions, Syndromes
Rapid screening test for omicron and other SARS-coV-2 variants
A rapid test that detects all known COVID-19 variants, including the highly transmissible omicron variant, has been developed by researchers at Rutgers New Jersey Medical School.
Jan 26, 2022
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Medical research
Liquid biopsies one step closer to entering the clinic to help guide breast cancer treatment
A simple blood test can identify specific genetic mutations in patients' breast tumors to help guide their treatment and assess how likely patients are to relapse, a study shows.
Nov 1, 2021
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Diseases, Conditions, Syndromes
New AI can predict virus mutations and help create more effective treatments and vaccines
Researchers have developed a new method that uses artificial intelligence to foresee the most likely mutations of pathogens like SARS-COV-2, the virus that causes COVID-19.
Oct 25, 2021
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Oncology & Cancer
You got your mother's eyes. Will you get her breast cancer?
Sometimes, when you look in the mirror you find your family looking back. It can be a source of pride—in some families, chins, noses, earlobes—even the way your brothers, sisters, aunts and uncles talk and laugh all seem ...
Oct 22, 2021
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Genetics
Researchers develop all-in-one test for the avoidance of de novo genetic disease in embryos
De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present ...
Aug 31, 2021
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Genetics
Previously unrecognized genetic mutation may underlie some cases of sudden infant death
A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the syndrome may be a cause of ...
Aug 18, 2021
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