Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants
Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found. In the Genomic Medicine for Ill Neonates and Infants (GEMINI) study, the diagnostic yield of whole genome sequencing was 49%, compared with 27% with NewbornDx, a standard targeted gene […]
EphrinB2 Expression in Urothelial Cancer Tied to Checkpoint Inhibitor Activity
A prior analysis of data from The Cancer Genome Atlas (TCGA) demonstrated that high EphrinB2 gene expression was associated with poor survival in patients with muscle-invasive bladder cancer. At the American Society of Clinical Oncology (ASCO) annual meeting, researchers reported new findings showing that EphrinB2 expression in patients with metastatic urothelial carcinoma was linked with […]
New discovery to bulk up gluten-free fiber supplement
Scientists have for the first time constructed the reference genome for the source of the popular fibre supplement, psyllium husk, which could boost supplies of the versatile plant-derived product. University of Adelaide experts conducted research on psyllium, also known as Plantago ovata. “We extracted and sequenced the deoxyribonucleic acid (DNA) from leaf tissue to construct […]
A better model for type 2 diabetes: The Nile rat
Researchers have assembled the first reference genome for the Nile rat — a kind of genetic template of this species that may be used for laboratory and clinical studies. The hope, according to UC Santa Barbara researcher Huishi Toh, is that it will be useful for those who investigate Type 2 diabetes and neurological disorders […]
Genetic ‘hotspots’ that speed up and slow down brain aging could provide new targets for Alzheimer’s drugs
Researchers from a USC-led consortium have discovered 15 “hotspots” in the genome that either speed up brain aging or slow it down — a finding that could provide new drug targets to resist Alzheimer’s disease and other degenerative brain disorders, as well as developmental delays. The research appears online today in Nature Neuroscience. “The big […]
How a virus packages its genetic material: Simulations could help design nanocontainers used in drug delivery
Each simple RNA virus has a genome, its “native RNA.” This genome dictates how the virus replicates in cells to eventually cause disease. The genome also has the code for making a capsid, the protein shell of a virus that encapsulates the genome and protects it like a nanocontainer. A team led by Roya Zandi, […]