A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec. The paper identifies a mutation in the gene encoding the glycogen debranching enzyme (AGL), which had previously been undetected in a decade of investigation by the same authors. Glycogen storage disease […]
Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists can definitively say how a CNV, once discovered in someone’s DNA, leads to one of these conditions in just a fraction of cases. To aid […]
UT Southwestern Medical Center scientists have identified a strong link between the most aggressive type of breast cancer and a gene that regulates the body’s natural cellular recycling process, called autophagy. Based on analysis of two large breast cancer databases, reduced activity of an autophagy gene, beclin 1, was related to both a higher incidence […]
Moffitt Cancer Center researchers have found that breast and lung cancer patients who have low levels of a protein called tristetraprolin (TTP) have more aggressive tumours and a poorer prognosis than those with high levels of the protein. Cancer arises through the increased activity of oncogenes, proteins that drive cancer growth, and the decreased activity […]
Investigators at Nationwide Children’s Hospital have developed an analysis “pipeline” that slashes the time it takes to search a person’s genome for disease-causing variations from weeks to hours. “It took around 13 years and $3 billion to sequence the first human genome,” says Peter White, PhD, principal investigator and director of the Biomedical Genomics Core […]
Finding out whether you have been infected with dengue may soon be as easy as spitting into a rapid test kit. The Institute of Bioengineering and Nanotechnology (IBN) of A*STAR has developed a paper-based disposable device that will allow dengue-specific antibodies to be detected easily from saliva within 20 minutes. This device is currently undergoing […]
Researchers at the Center for Infection and Immunity at Columbia University’s Mailman School of Public Health identified distinct immune changes in patients diagnosed with chronic fatigue syndrome, known medically as myalgic encephalomyelitis (ME/CFS) or systemic exertion intolerance disease. The findings could help improve diagnosis and identify treatment options for the disabling disorder, in which symptoms […]
Scientists have proposed a new idea for detecting brain conditions including Alzheimer’s – a skin test. Their work, which is at an early stage, found the same abnormal proteins that accumulate in the brain in such disorders can also be found in skin. Early diagnosis is key to preventing the loss of brain tissue in […]
Corgenix Medical Corporation announced it has received U.S. Food and Drug Administration (FDA) emergency use authorization (EUA) of its ReEBOVTM Antigen Rapid Test. The test is to be used for the presumptive detection of Ebola Zaire virus (detected in the West Africa outbreak in 2014) in individuals with signs and symptoms of Ebola virus infection […]
Scientists at The University of Texas MD Anderson Cancer Center may have discovered why some brain cancer patients develop resistance to standard treatments including radiation and the chemotherapy agent temozolomide. Simply put, it’s all in their DNA, and it could open up new avenues for treating certain kinds of brain cancer. DNA, the body’s essential […]
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