Molecular Dx

The research suggests that wide screening of younger women for HBOC should be considered both to prevent more cancers and to help more women at low risk of breast cancer to avoid unnecessary additional screening.  

The COVE trial’s independent, NIH-appointed Data Safety Monitoring Board (DSMB) has carried out a first interim analysis showing just five cases of COVID-19 in the mRNA-1273 group, compared with 90 seen in the placebo group.

The researchers examined correlations between levels of the neurofilament light protein and the degree of brain injury, in addition to neurological, functional, or cognitive status of patients at the time their blood was collected.

An international collaboration has revealed the complex RNA structure of the SARS-CoV-2 virus and investigated how it binds with the host cell to drive infection. The researchers believe that targeting the RNA directly could be an alternate way to combat the virus.

The physicians found genomic sequencing medically useful 93% (42 of 45 cases) of the time when the test was positive—or helped to make a diagnosis. When the test was negative, sequencing was also deemed useful 72% (112 of 156) of the time.

A gene mutation in the cystic fibrosis gene may explain why some people with Duchenne Muscular Dystrophy experience cardiomyopathy at an earlier stage to others according to research from the University of Texas Southwestern Medical Center.

The research findings could help to improve our understanding of how chemicals, including pollutants and pharmaceuticals, interact to impact gene expression, and potentially human health.

Eric Green, M.D., Ph.D., director of the NHGRI, spoke about the process, the results, and how the vision turned out to be quite different than what had expected.

Tumor DNA from the brain cancer medulloblastoma is present in large quantities in the cerebrospinal fluid and can be used to accurately diagnose and monitor disease progression, show Spanish study findings.

The disorder called VEXAS, which appears to result in high mortality among those male patients diagnosed to date, connects what have been seemingly unrelated adult-onset inflammatory syndromes, and causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities, and vacuoles (unusual cavity-like structures) in myeloid cells.