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The apolipoprotein E, or APOE, gene is the strongest genetic risk factor for developing Alzheimer's disease. However, a rare variant of this gene that was previously identified by Mayo researchers as APOE p. V236E, is associated with a protective effect. The gene variant is now named after the city where the research team is based: APOE3 ...
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 ...
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 an inherited cancer-related ...
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 ...
ROCHESTER, Minn. — Six genes contain mutations that may be passed down in families, substantially increasing a person’s risk for pancreatic cancer. That's according to Mayo Clinic research published in the June 19 edition of the JAMA. However, because researchers found these genetic mutations in patients with no family history of pancreatic cancer, they are […]
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 samples, including those altered in cancer.
Genetics. "Sickle cell disease is a genetic, inherited disorder. It's caused by a mutation in the gene that encodes for hemoglobin," says Dr. Ferdjallah. For a baby to be born with the disease, both parents must carry a sickle cell gene. The normally flexible red blood cells turn into rigid crescent shapes — sickle cells— that get stuck in ...
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 be associated with […]
Hereditary type transthyretin amyloid is caused by a gene mutation and is considered rare, except in Black Americans. Not everyone with the gene variation will get the condition. "The key thing, once a clinician suspects amyloid, is that it's a medical emergency." Dr. Grogan says amyloidosis is tricky to diagnose. At first, there are no symptoms.
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.