Study suggests the benefits of a more personalized therapy typically outweigh the risks of delaying treatment to await test results AMERICAN SOCIETY OF HEMATOLOGY PRINT E-MAIL New tailored therapies offer exciting prospects for treating acute myeloid leukemia (AML), but taking advantage of them may require waiting a week or more for genetic testing before starting...
Category: <span>Genetics</span>
Discovery of a novel gene involved in DNA damage repair and male fertility
Clarifying the mechanisms for meiotic recombination in sperm production KUMAMOTO UNIVERSITY A research group from the Institute of Molecular Embryology and Genetics (IMEG)at Kumamoto University, Japan has discovered that the gene C19ORF57 plays a critical role in meiosis. The gene appears to be related to the cause of male infertility and could be a big...
How a microRNA protects vascular integrity
by Ludwig Maximilian University of Munich Short RNA molecules known as microRNAs (miRNAs) play a vital role in the regulation of gene expression. Anomalies in miRNAs expression and function have been implicated in pathological processes, such as the development of chronic diseases like atherosclerosis. The regulatory functions of miRNAs usually take place in the cytoplasm,...
Genetic database provides rare disease clues and Parkinson’s hope
by Kate Wighton, Imperial College London Scientists have created the world’s largest publicly available database of genetic variants—changes in DNA that can sometimes lead to disease. The use of this resource, called the Genome Aggregation Database (gnomAD) and including information from over 140,000 people from across the globe, is described in a landmark collection of...
Gene inactivation of PTEN drives cancer predisposition
by Cleveland Clinic An international team of researchers co-led by Cleveland Clinic have identified why patients without PTEN mutations may still experience the high cancer risk associated with PTEN hamartoma tumor syndrome (PHTS). In a new study published in the New England Journal of Medicine, a research team co-led by Charis Eng, MD, Ph.D., Cleveland...
Complement genes add to sex-based vulnerability in lupus and schizophrenia
Variants in a gene of the human immune system cause men and women to have different vulnerabilities to the autoimmune diseases lupus and Sjögren’s syndrome, according to findings published in the journal Nature. This extends recent work that showed the gene variants could increase risk for schizophrenia. The gene variants are a member of the...
Additional genetic cause for non-alcoholic fatty liver disease discovered
In Germany about 18 million people suffer from non-alcoholic fatty liver. The causes of this disease are manifold and include environmental as well as genetic factors. DZD researchers have now discovered new genes that play a role in the development of fatty liver. In humans and mice, respectively, the genes IRGM, Ifgga2 and Ifgga4 are...
Weight loss surgery may alter gene expression in fat tissue
Altered gene expression in fat tissue may help explain why individuals who have regained weight after weight loss surgery still experience benefits such as metabolic improvements and a reduced risk of type 2 diabetes. The findings come from a study published in the Journal of Internal Medicine. The study included women who underwent weight loss...
Scientists identify gene linked to thinness that may help resist weight gain
by Cell Press While others may be dieting and hitting the gym hard to stay in shape, some people stay slim effortlessly no matter what they eat. In a study publishing May 21 in the journal Cell, researchers use a genetic database of more than 47,000 people in Estonia to identify a gene linked to...
Scientists discover more than 200 genetic factors that cause heart arrhythmia
by Queen Mary, University of London Hundreds of new links have been found between people’s DNA and the heart’s electrical activity, according to a study of almost 300,000 people led by researchers at Queen Mary University of London and the Broad Institute of MIT and Harvard. The results could one day lead to advanced screening...