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It’s time for comprehensive genetic testing of the germ line in breast cancer

A new study provides additional support for comprehensive germline genetic testing of affected women breast cancer. The study found that adherence to current restrictive guidelines on germline testing is missed by a significant number of women with pathogenic or potentially pathogenic (P/LP) variants, which would alter patient management. The study used a polygenic cancer panel … Read more

Meet the Smithsonian Scientist Revealing Important Conservation Clues in the Koala’s Genetic Code | Smithsonian Voices

Smithsonian chief scientist Rebecca Johnson takes a selfie with one of her most persistent research subjects, the koala, at Australia’s Featherdale Wildlife Park. Nicholas Langley Few species inspire as much adoration as koalas. With their adorable charms, these Australian marsupials are world celebs, inspiring everything from plush dolls to cartoon characters. Koalas are also a … Read more

A ‘mystery gene’ matures a key component of a cell’s skeleton

“I’m a professional researcher in a haystack,” replied geneticist Thane Brummelkamp, ​​when asked why he excelled at tracking proteins and genes that others had not found, despite the fact that some had managed to remain elusive because of it. Duration up to forty years. His research group at the Netherlands Cancer Institute has once again … Read more

AI-guided tools precisely identify immune cell driver and protective genetic factor for esophageal cancer

Esophageal adenoma (EAC) is a type of cancer that affects the mucous glands of the lower esophagus -; The tube that connects the throat to the stomach. It is the most common form of esophageal cancer and is often preceded by Barrett’s metaplasia (BE), which is a harmful change in the cells lining the esophagus. … Read more

UCLA professor wins NAM award for pioneering research and leadership in the genetics of autism

Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA, has been awarded the National Academy of Medicine (NAM) 2022 Rhoda and Bernard Sarnat International Prize in Mental Health in recognition of his groundbreaking research and leadership in the genetics of autism. The Sarnat Prize, which includes a … Read more

Researchers join forces to ‘map’ identified differences in more than 25 key heart disease genes

One in 100 people has genetic variations that can cause life-threatening heart disease, including high cholesterol (lipid disorders), heart muscle disease (cardiomyopathy), and abnormal heart rhythms (arrhythmias). However, the functional impact of most of these cardiovascular genetic variants -; whether it disrupts normal function or is harmless -; unknown. This is about to change. Researchers … Read more

Duke researchers identify hidden chlamydial cloaking device

Chlamydia, the main cause of bacterial sexually transmitted infections, evades detection and eradication within human cells using a masking device. But researchers at Duke University have recognized the fringe of the invisibility cloak and now hope they can unravel it. To enter the cell and reproduce peacefully, many pathogenic bacteria, including chlamydia, cover themselves with … Read more

Researchers receive a $1.2 million grant from the Keck Foundation to find molecules to target the ‘indestructible protein’

The W.M. Keck Foundation has awarded a grant of US$1.2 million to researchers in medicinal chemistry and computational biology at the University of Kansas and the University of Chicago who have focused on addressing a long-unsolved problem in biomedical research—; Finding molecules capable of targeting the “indestructible protein”. Jingxin Wang, associate professor of medicinal chemistry … Read more