Genomewide association studies (GWAS) have so far underperformed in identifying genetic contribution to disease, but they have demonstrated that most genetic contributors to complex diseases consist of small contributions of relatively common variants, rather than large contributions of rare ones. Scientists at the Finnish University of Helsinki have developed a method to calculate a polygenic risk score for such common variants and used it to identify genetic contributions to migraine risk.
Preterm birth is the root cause of roughly a third of deaths in the first year of life in the developed world. Researchers from the University of California at San Francisco have shown fetal immune reactions to maternal proteins during pregnancy. Previous work has shown that maternal immune responses to the fetus contributed to pregnancy complications, but the reverse possibility has received less attention.
LOS ANGELES – At the American Academy of Neurology (AAN) annual meeting this week, Walter Koroshetz pointed out two causes of the opioid epidemic that are obvious in one sense. But ending the opioid epidemic will require figuring out a way to address the relationship between them.
SAN DIEGO – Collectively, G protein-coupled receptors (GPCRs) are a treasure trove of drug targets. Somewhere between 30 and 50 percent of FDA-approved therapeutics are thought to work by targeting GPCRs.
LOS ANGELES – Tuesday's plenary session at the American Academy of Neurology annual meeting was dedicated to clinical trials, with researchers reporting progress in treating diseases including the common such as stroke and traumatic brain injury, and the rare such as hereditary transthyretin-mediated amyloidosis and lysosomal storage disorder CLN2.
Tumors with a high mutational burden, such as lung tumors, present a good news-bad news conundrum for targeted therapies. The many mutations in their genomes make finding an actionable driver mutation akin to finding a needle in a haystack, though those many mutations also make it likely that there is a needle in the haystack in the first place. Researchers from the University of Texas Southwestern Medical Center and the South Korean Yonsei University College of Medicine have now developed an analysis method to identify "therapeutic triads" consisting of a target mutation, an enrollment biomarker, and a tool compound effective against the target mutation.
Researchers have found that in the case of a mild concussion, damage to the lining of the brain was quickly repaired by the peripheral immune system, and once repaired, was no worse for wear in the face of a second injury.
In findings that could improve both risk prediction and treatment of anaphylactic shock, researchers at the Institute Pasteur have discovered that IgG antibodies could activate platelets, exacerbating the severity of anaphylactic episodes.
Researchers have identified infection with Epstein-Barr virus (EBV), best known for causing mononucleosis, as a risk factor for seven autoimmune diseases.