Scientists from The Hospital for Sick Children (SickKids) and the University of Las Vegas, Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic condition called myotonic dystrophy type […]
A new study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role in the development of the brain, eyes and other organ systems. Researchers at Baylor College of […]
Both the use of next-generation sequencing (NGS) testing for cancer and the rate of claim denials for such testing increased between 2016 and 2021, despite implementation of a recent Medicare national coverage determination that established […]
A study published in The American Journal of Human Genetics by researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital provides solutions to […]
Alpha-1-antitrypsin is a so-called protease inhibitor, a type of enzyme inhibitor. It is produced in the liver but exerts its effects in the lungs, where it regulates immune cell activity. This regulation is crucial, and […]
The incidence of Human Papillomavirus (HPV)–associated oropharyngeal cancers—tumors of the back of the mouth and throat—is rising. If caught early, most of these cancers have a high survival rate, but about 20% of patients have […]
Cleft lip and cleft palate are among the most common birth defects, occurring in about one in 1,050 births in the United States. These defects, which appear when the tissues that form the lip or […]
Researchers from Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify potential mutations which increase disease risk in the […]
Metformin, a widely used and affordable diabetes drug, could prevent a form of acute myeloid leukemia in people at high risk of the disease, a study in mice has suggested. Further research in clinical trials […]
In a manuscript published in the American Journal of Psychiatry titled “Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals,” the authors provide updated guidelines on what mental health professionals should know about […]
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