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Scientists have reported that many inheritance mutations are caused by DNA damage rather than errors in DNA doubling. The study was conducted by an international research group and published in Nature Genetics. Unfortunately, the reasons for mutations in normal cells that have not been exposed to ultraviolet, smoke or other external mutagens are understudied. According […]
A team of scientists at the Research Institute of the McGill University Health Centre (RI-MUHC) and McGill University have identified three genes responsible for recurrent molar pregnancies, a rare complication that occurs when a non-viable pregnancy with no embryo implants in the uterus. The results of this study could have important implications, since until now […]
By studying the effect of genetic variations on lifespan across the human genome, researchers have devised a way to estimate whether an individual can expect to live longer or shorter than average, and have advanced scientific understanding of the diseases and cellular pathways involved in aging. Their findings were presented at the American Society of […]
Loss of a protein that regulates mitochondrial function can greatly increase the risk of myocardial infarction (heart attack), Vanderbilt scientists reported Oct. 3 in the journal eLife. The study illustrates how “integrative genomics,” a combination of basic research, a human biobank linked to electronic health records and novel computational genetic approaches can identify genetically determined […]
As a veterinarian, Dr. Carolyn Duregger is familiar with the telltale signs of canine melanoma. So when she gave her own dog, Parker, a routine oral examination, the 1-centimeter-diameter discolored lump in the pup’s upper right gums took her breath away. “It’s an aggressive cancer with poor prognosis that I’ve seen many times. My stomach […]
The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder goes untreated, affected children experience developmental delay and frequently have neurological problems. Various defects in one gene underlie the syndrome. […]
Cutting-edge DNA sequencing technology has been used by QUT researchers at the new Australian Translational Genomics Centre (ATGC) to identify genetic mutations in 100 patients with blood cancers, with this testing providing clinically important information to doctors about prognosis and likely treatment responses for the majority of patients. Launched in July last year, the ATGC […]
Genetic testing is a powerful diagnostic tool that is increasingly being used for the diagnosis of dilated cardiomyopathy, a disease in which the heart becomes enlarged, making it difficult to pump blood. Cardiomyopathy affects more than 3.5 million people in the United States. African Americans are at especially high risk but have been underrepresented in […]
Sarcomas are rare tumors that are often misdiagnosed. Specific recurrent chromosomal rearrangements, known as translocations, can serve as essential diagnostic markers and are found in about 20 percent of sarcomas. Identification of these translocations helps establish a correct diagnosis and guides treatment. A report in the Journal of Molecular Diagnostics describes a new assay, anchored […]
FRIDAY, Aug. 17, 2018 — Testing for gene mutations linked to breast and ovarian cancer is rare among some Medicare patients who have the cancers and qualify for such tests, a new study finds. Researchers analyzed data from 12 southeastern states between 2000 and 2014. Only 8 percent of 92 women who met Medicare criteria […]