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vascular disease

Researchers identified somatic KRAS mutations in affected tissue from more than 60 percent of people with sporadic arteriovenous malformations of the brain.

Tapping into genetic variation in the CETP gene, investigators explored blood lipid and disease effects of high-density cholesterol changes.

With new gene sequencing panels, investigators made firm or possible diagnoses in almost one-third of undiagnosed autoinflammation and vasculitis cases.

This Week in PLOS

In PLOS this week: PHACTR1 variant linked to fibromuscular dysplasia, harbor porpoise population study, and more.

A team of researchers from  Brigham and Women's Hospital and Harvard Medical School found that the two proteins appear to have opposing effects.

According to the company, the study, which was presented at the 42nd Annual Meeting on Women's Cancer of the Society of Gynecological Oncologists, examined more than 20 candidate biomarkers, identifying three potentially useful analytes.

The NHGRI-led program has seen its first major success by identifying the genetic basis for a rare and debilitating vascular disorder.

NHLBI in late January put out an RFP for the program, which calls for researchers to develop proteomics technologies and apply them to solve clinical puzzles. It is set to begin early next year, shortly after its current two major proteomics initiatives expire.

IP Update

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USPTO Publishes Six RNAi-Related Patent Applications

Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.