Biomarkers are indicators of biological events. They are either present, or not; they may increase or decrease; or simply change form. They relate to normal biological states, the presence of disease (or the risk of it), or in response to intrusions into the body, including medical treatment or injury. Above…

Geisinger Health announced last week that its precision medicine project MyCode reached the milestone enrollment of 250,000 participants in Pennsylvania and New Jersey. To date, the project has both DNA sequence and health data on 145,000 of those participants and has returned medically actionable results to nearly 1,500 participants. “Geisinger…

Specific patterns of protein levels in our blood could be used to provide a comprehensive “liquid health check” that gives a snapshot of health and potentially an indication of the likelihood that we will develop certain diseases or health risk factors in the future, according to research by scientists in…

The FH Foundation, a research and advocacy organization focused on familial hypercholesterolemia (FH), published a study today showing that a machine learning model it developed effectively identified individuals with probable FH for the first time at a national scale. The FH Foundation study was designed to validate and implement the…

A new study has revealed a novel gene associated with Type 2 diabetes. The study, which was published in the July 19, 2019 issue of Nature Communications, included genomic data from more than 5,000 people of Sub-Saharan African origin with the disease. According to its authors, it is the largest…

A new study led by researchers at the National Institutes of Health (NIH) adds more weight to previous findings implicating variants of the gene ARMC5 in the increased risk of hypertension in blacks. Researchers identified 17 variants in the gene that were associated with high blood pressure in individuals of…

Picking the right blood pressure drug for the right person is not easy, especially when there are so many to choose from. There are five major classes of these drugs and more than 60 options total used to treat heart disease, a condition 1 in 3 Americans have. Having high…

Doctors were able to give critically ill patients with mysterious neurological symptoms life-saving treatment thanks to a new clinical application of next-generation sequencing (NGS). In a study published in 12 June 2019 in the New England Journal of Medicine, researchers report the use of metagenomic NGS to successfully identify potentially…

When Jiankui He shocked the world last year by editing the genomes of twin girls, he offered the rationale that the CCR5-∆32 mutation would protect the babies from HIV infection. Not only was this reason widely denounced by the scientific community, but new research from the University of California (UC), Berkeley,…

Big data-analysis of genome-wide association studies has enabled advances in precision medicine approaches to the diagnosis and treatment of a multitude of human diseases, but leave ethnic minorities behind, according to a commentary published in Cell on March 21.  The article by Girgio Sirugo and Sarah A. Tishkoff, both of…

The risk of death, like the risk of disease, rises with age. That much is obvious. What is less obvious is that for mortality and disease, the underlying risk dynamics—what might be called the actuarial contours of decline—are closely associated. In fact, the contours are so similar that scientists suspect…

Scientists at the University of Birmingham report the discovery of two biomarkers that could be used to identify atrial fibrillation in patients who have three clinical risks. Sometimes atrial fibrillation does not cause any symptoms and a person who has it is completely unaware that their heart rate is irregular. Now…

The NIH said it has awarded research grants to five academic medical centers toward creation of new clinical sites, in an expansion of its Undiagnosed Diseases Network (UDN) that will include a new metabolomics core, and increased model organism capabilities. The grants are intended to help the new sites improve…

Clinical categories for psychiatric disorders may need to be rethought, suggests a new study from the aptly named Brainstorm Consortium, a collaborative effort that accepted input from researchers representing 600 institutions worldwide. By pooling their data on hundreds of thousands of genomes, these researchers found genetic connections among distinct psychiatric…

Nightingale Health, the developer of a blood biomarker technology for studying chronic diseases, said today it will analyze the biomarker profiles of 500,000 blood samples from UK Biobank, under a 30-month collaboration the company will fund through a €10 million ($11.6 million) investment in the biorepository. The technology, Nightingale said,…