Contact Information Available for logged-in reporters only Newswise A new study by Johns Hopkins researchers links a well-known cell communication pathway called Notch to one of the most common but overall still rare brain tumors found in children. Their study, described in the February 2015 issue of the Journal of Neuropathology & Experimental Neurology, suggests the pathways involvement with a low-grade brain tumor called pilocytic astrocytoma, or PA. The tumor, which makes up an estimated 15 percent of primary brain tumors in children and adolescents, is slow growing. Surgical removal is usually the only treatment necessary, according to the Johns Hopkins scientists, although cases occur in hard-to-reach spots in the brain where they may grow and cause seizures, vision loss, and physical coordination problems. An estimated one in 100,000 children is diagnosed with PA each year in the United States, according to the Central Brain Tumor Registry of the United States. According to Fausto Rodriguez, M.D., associate professor of pathology at the Johns Hopkins University School of Medicine and a member of the Johns Hopkins Kimmel Cancer Center, he and his colleagues made their discovery while comparing the expression of genes as measured by the amount of RNA the genes … Continue reading →

In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis is less effective than sequential screening as primary testing for fetal chromosomal abnormalities. The study, titled Cell free DNA Analysis vs. Sequential Screening as Primary Testing Considering Chromosomal Abnormalities, compared sequential screening to cell free DNA for detection of all fetal chromosomal abnormalities in a general prenatal cohort. The study discusses some of the complexities of cell free DNA screening when implemented in large populations. Although cell free DNA can very precisely detect Down syndrome and a few other serious chromosome abnormalities (as well as fetal sex), there are two limitations that are important. One is that cell free DNA screens for a very limited panel of abnormalities, as compared to current screening, which is able to determine that there is an increase in risk in the presence of a very broad array of fetal abnormalities, including many different chromosome problems in addition to the common conditions. Secondly, sequencing of fetal DNA is complex, and requires that a minimum amount … Continue reading →