Oct 20, 2021 · Mayo Clinic discovery scientists are working to better understand the pathology of Alzheimer's, and are one step closer with research on a gene variant that reduces the risk of Alzheimer's disease and dementias published in Science Translational Medicine. The apolipoprotein E, or APOE, gene is the strongest genetic risk factor for developing Alzheimer's …

Nov 24, 2022 · Identifying hereditary gene mutations in pancreatic cancer can help determine individualized treatments and potentially prolong survival, according to new Mayo Clinic Center for Individualized Medicine research. In the study, which was published in Clinical and Translational Gastroenterology, nearly 1 in 6 people diagnosed with pancreatic cancer were found to have …

Apr 19, 2021 · This mutation would not have been detected in half of these patients using a standard guideline-based approach. "We found that 13.5% of patients had an inherited mutation in a gene associated with the development of their cancer," says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist, who is the study's author ...

Jul 1, 2021 · ROCHESTER, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to …

May 30, 2024 · The platform uses mass spectrometry to identify a key gene mutation in brain cancer, known as isocitrate dehydrogenase (IDH) mutations, in real time. Mass spectrometry is a sensitive technique used to analyze substances in tissue …

Nov 2, 2020 · This mutation would not have been detected in half of these patients using a standard guideline-based approach. "We found that 13.5% of patients had an inherited mutation in a gene associated with the development of their cancer," says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist, who is the study's author ...

Oct 15, 2010 · Genetic testing to detect these gene mutations requires a blood sample that is sent to a laboratory for analysis. Unfortunately, determining if someone is carrying a gene mutation for ALS isn't as simple as performing a single test. About two-thirds of the familial cases of ALS involve gene mutations that researchers have not yet identified.

Mar 5, 2024 · An estimated 13% of Black Americans have a gene variation that puts them at higher risk. "APOL1 is a genetic variant that's been recognized. It's an abbreviation of apolipoprotein L1," he explains. Not everyone who has the gene variation has kidney disease, but the presence makes the risk of chronic kidney disease more likely.

Feb 6, 2023 · Gene changes are like spelling errors within your body's instruction manual. Most genetic tests look for changes in a group of genes called a panel. However, testing may look for changes in a single gene when there is a known genetic mutation in your family. The most common genes typically thought of related to cancer risk are BRCA1 and BRAC2.

Nov 22, 2016 · If genetic testing is recommended for you, you decide to have it done, and you learn that you do have a BRCA gene mutation, your risk for breast cancer would be much higher than normal. In women without BRCA, the odds of getting breast cancer are 1 in 8. For people with a BRCA mutation, lifetime risk for breast cancer ranges from 50 to 80 percent.