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Vanderbilt University Medical Center researchers and co-authors from four other U.S. institutions from the Electronic Medical Records and Genomics (eMERGE) Network are repurposing genetic data and electronic medical records to perform the first large-scale phenome-wide association study (PheWAS), released today in Nature Biotechnology.

Traditional genetic studies start with one phenotype and look at one or many genotypes, PheWAS does the inverse by looking at many diseases for one genetic variant or genotype.

Predicting nasopharyngeal carcinoma patient response to radiation therapy

The circadian clock synchronizes the molecular activity of cells to their environment. The "core clock" of the circadian system is made up of a group of proteins that autonomously activate and repress each other. BMAL1, one of the activating core clock proteins, is critical for maintaining circadian rhythm and for controlling oxidative stress, normal aging and cognitive ability.

Depending on the signals received, naïve T cells are able to differentiate into mature T cell populations, which play different roles in the immune system. For example, regulatory T cells (Tregs) are important for tamping down the immune response and preventing development of autoimmune disease, while effector T cells promote inflammation. Maintaining the proper balance between Tregs and effector T cells prevents immune dysfunction.

In response to blood vessel damage, von Willebrand factor (vWF) binds to the exposed extra cellular matrix, recruits platelets to the site of injury, and activates platelets, which promotes thrombis formation. Patients with von Willebrand disease type 2B (vWD-type 2B) produce a vWF protein that has a high binding affinity for platelets; however, these patients exhibit a bleeding tendency that is thought to be due to loss of vWF multimers.

Most people have experienced the effects of circadian-rhythm disruption, after traveling across time zones or adjusting to a new schedule. To have any hope of modulating our biological "clocks," to combat jet lag or cope with alternating shifts, we need to first understand the physiology at play. A new study in The Journal of General Physiology helps explain some of the biophysical processes underlying regulation of circadian rhythms.

The resistance of some cancers to the cell-killing effects of radiation therapy may be due to abnormalities in the mitochondria – the cellular structures responsible for generating energy, according to an international team of researchers. Their findings are published in the Nov. 25 issue of Developmental Cell.

WASHINGTON—Archaeologists working in Nepal have uncovered evidence of a structure at the birthplace of the Buddha dating to the sixth century B.C. This is the first archaeological material linking the life of the Buddha — and thus the first flowering of Buddhism — to a specific century.

CHAPEL HILL, N.C. – Researchers at the UNC School of Medicine, working with cell lines in a lab, have discovered why some of the most aggressive and fatal breast cancer cells are resistant to chemotherapy, and UNC scientists are developing ways to overcome such resistance.

Adriana S. Beltran, PhD, a research assistant professor in the department of pharmacology, found that the protein Engrailed 1 is overexpressed in basal-like carcinomas and designed a chain of amino acids to shut down the protein and kill basal-like tumors in the lab.

Augusta, Ga. - It turns out that your messenger RNA may catch more than one ride to get where it's going.

Scientists have found that mRNA may travel one way down a cell, then board another, aptly named motor protein, and head in the opposite direction to get where it ultimately needs to be.

It's a pretty important journey, because mRNA determines which proteins a cell expresses, differentiating a brain cell from, say, a muscle cell, said Dr. Graydon B. Gonsalvez, cell biologist at the Medical College of Georgia at Georgia Regents University.

WORCESTER, MA – Scientists at the University of Massachusetts Medical School (UMMS) have developed a new method for piecing together the short DNA reads produced by next-generation sequencing technologies that are the basis for building complete genome sequences. Job Dekker, PhD, and colleagues have shown that entire genomes can be assembled faster and more accurately by measuring the frequency of interactions between DNA segments and by using their three-dimensional shape as a guide.

CORVALLIS, Ore. – A new study has found that many people who stopped taking cholesterol-lowering statin drugs were also taking an average of three other drugs that interfered with the normal metabolism of the statins.

The other drugs can contribute to a common side effect of taking statins - muscle pain – and often led people to discontinue use of a medication that could otherwise help save their life, researchers learned.

A novel approach to treating children diagnosed with autism spectrum disorder could help them navigate their world by teaching them to turn their symptoms into strengths.

A research paper published in the scientific journal Tobacco Control, "Cigarette graphic warning labels and smoking prevalence in Canada: a critical examination and reformulation of the FDA regulatory impact analysis", shows that graphic warning labels on cigarette packs led to a decrease in smoking rates in Canada of between 12% and 20% from 2000 to 2009. The authors estimate that if the same model was applied to the United States, the introduction of graphic warnings would potentially lead to a decrease of between 5.3 and 8.6 million smokers.

HOUSTON -- (Nov. 25, 2013) -- Chemical engineers at Rice University have found a new catalyst that can rapidly break down nitrites, a common and harmful contaminant in drinking water that often results from overuse of agricultural fertilizers.