A germline mutation is any detectable and heritable variation in the lineage of germ cells, any biological cell that gives rise to the gametes of an organism in sexual reproduction. … Continue Reading Study provides most detailed analysis yet of germline mutations involved in childhood cancers.
Inflammatory bowel disease (IBD) is a painful, chronic inflammation of the gastrointestinal tract, affecting roughly two million children and adults in the U.S. Inflammatory bowel disease (IBD) beginning in childhood tends … Continue Reading Study identifies gene variants in inflammatory bowel disease under Age 5.
Autism spectrum disorder (ASD) represents a diverse group of neurodevelopmental conditions. The clinical presentation and outcome vary substantially. The use of genome-wide tests to provide molecular diagnosis for individuals with … Continue Reading Study identifies children with Autism who benefit from genetic testing.
Dividing cells are prone to errors, and so they must be prepared to summon sophisticated emergency systems to deal with potential damage. One type of division-derailing mishap can occur when … Continue Reading Researchers identify previously unknown part of the ICL DNA repair pathway.
A study to examine recessively inherited genome-wide DNA sequences has for the first time discovered a potential link with Britain’s biggest killer, Coronary Artery Disease (CAD). The research led by … Continue Reading Researchers identify the link between inherited DNA sequences and heart disease.
New technology developed by Howard Hughes Medical Institute (HHMI) and Brigham and Women’s Hospital researchers makes it possible to test for current and past infections with any known human virus by … Continue Reading New bacteriophage-based assay gives a person’s whole viral infection history in a drop of blood.
Researchers at the University of Bonn and the German Center for Infection Research (DZIF) have discovered two new groups of viruses within the Bunyavirus family in the tropical forest of … Continue Reading Researchers have discovered two new groups of viruses.
A group of researchers from the Lomonosov Moscow State University and the University College Cork have studied the early response of cells to ischemia, which is a restriction in blood … Continue Reading Researchers identify previously unseen mechanisms of the early response of cells to ischemia.
In results presented at the American Association for Cancer Research (AACR) Annual Meeting 2015, a collaborative study by the University of Colorado and the National Cancer Institute (NCI) reports that … Continue Reading Precision medicine study shows the most frequently altered gene in bladder cancer.
Researchers at the Spanish National Cancer Research Centre (CNIO) have described the presence of mutations in the MDH2 gene, in a family with very rare neuroendocrine tumours associated with a … Continue Reading Researchers identify point of epigenetic mutation of hereditary neuroendocrine tumours.
A small number of children who catch the influenza virus fall so ill they end up in the hospital, perhaps needing ventilators to breathe, even while their family and friends … Continue Reading Epigenetic mutation helps explain why, in rare cases, flu can kill.
Leprosy is a chronic infection of the skin, peripheral nerves, eyes and mucosa of the upper respiratory tract, affecting over a quarter million people worldwide. Its symptoms can be gruesome … Continue Reading The genomes and origins of the leprosy bacterias compared for the first time.
A group of researchers from Washington University, Agios Pharmaceuticals and ITMO University has discovered new metabolic mechanisms that regulate macrophage polarization, the unique ability of these immune cells to change … Continue Reading Epigenetic metabolic pathways mapped that regulate the macrophage’s role in immune response.
Columbia University Medical Center (CUMC) researchers have pinpointed the immune system mechanism that allows a kidney transplant to be accepted without lifelong immunosuppressive drugs, a significant step toward reducing or … Continue Reading Kidney transplant tolerance mechanism identified.
Researchers at the University of Alberta and Beijing Genomics Institute have found that human betaretrovirus (HBRV) infection is commonly observed in the cells of patients with primary biliary cirrhosis (PBC), a … Continue Reading Researchers solve 40-year-old mystery of betaretrovirus infection in humans.
Antibiotic-resistant infections are on the rise, foiling efforts to reduce death rates in developing countries where uncontrolled use of antibiotics and poor sanitation run amok. The epidemic of ‘superbugs,’ bacteria … Continue Reading Bacteriophages encoded from antibiotic-resistant bacteria DNA, used to destroy parent bacteria.