A liquid biopsy test has detected changes in the BRCA1 or BRCA2 genes associated with ovarian and breast cancer that signal when the disease stops responding to treatment through platinum chemotherapy or poly ADP-ribose polymerase (PARP) inhibitors. [Source: © freshidea/Fotolia]

Population-Wide Hereditary Breast, Ovarian Cancer Screening in Younger Women is Cost-Effective

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.  
Doctor holding Coronavirus vaccine. COVID 19 concept

Moderna: COVID-19 Vaccine Candidate 94.5% Effective According to Early Phase III Data

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.
Stroke, illustration

Brain Injury from Stroke Assessed by Blood-Based Biomarker

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.
3d illustration of a  part of RNA chain from which the deoxyribonucleic acid or DNA is composed

Targeting SARS-CoV-2 RNA Structure Could Help Combat COVID-19

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.

First Line Sequencing Seen as a Win for Both Parents and Doctors of Infants...

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.
NGS technology has enabled researchers to epidemiologically analyze DNA sequences by quickly deciphering mass quantities of genetic information in a short amount of time. [Heart illustration: iStock/SvetaP DNA double helix: iStock/Kagenmi]

Gene Mutation Could Explain Variation in Cardiac Symptoms in Duchenne Muscular Dystrophy

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.
Biotechnology molecular structure

New Research Shows the Sensitivity of Thousands of Genes to Chemical Exposure

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.
DNA sequencing

NHGRI Unveils Strategic Vision to Build Diversity, Break Down Barriers

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.
brain tumor

Cerebrospinal Fluid Samples Provide Accurate Picture of Medulloblastoma

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.
A genotype-to-phenotype approach to discovering a new autoinflammatory disease

Human Genome Used to Discover New Fatal Inflammatory Disorder in Men

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.
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