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A collaborative team of researchers has used next generation sequencing to identify clinically relevant genetic variants associated with a rare pediatric speech disorder. The findings are published in the September 16, 2013 issue of the Journal of Neurodevelopmental Disorders http://www.jneurodevdisorders.com/content/5/1/29.

Childhood apraxia of speech (CAS) is a rare, severe speech disorder that in some patients also affects cognitive, language, and learning processes.

On October 25, JoVE, the Journal of Visualized Experiments will publish a novel technique to confront the problem of antibiotic resistance. According to Dr. Joseph Ndieyira, one of the developers involved in the technique, "The use of this technology will allow scientists to understand how antibiotics work, how bacteria develop resistance, and what molecular mechanisms could be exploited to get around their defense mechanisms."

Atlanta, GA (October 25, 2013)—Approximately 10% of deceased donor kidneys are considered "high-risk" for infection (HIV, HCV, HBV) and disease transmission according to criteria set by the Centers for Disease Control and Prevention. But new research suggests that many of these organs are safe and therefore should not be labeled as high-risk. Results of this study will be presented at ASN Kidney Week 2013 November 5-10 at the Georgia World Congress Center in Atlanta, GA.

HOUSTON – (Oct. 25, 2013) – With their participation in the completion of the largest cloud-based analysis of genome sequence data, researchers from the Baylor College of Medicine Human Genome Sequencing Center are helping to usher genomic scientists and clinicians around the world into a new era of high-level data analysis. (A "cloud" is a virtual network of remote internet servers used to store, manage and process information.)

LOS ANGELES (Oct. 25, 2013) – Although the technology has existed for just a few years, scientists increasingly use "disease in a dish" models to study genetic, molecular and cellular defects. But a team of doctors and scientists led by researchers at the Cedars-Sinai Regenerative Medicine Institute went further in a study of Lou Gehrig's disease, a fatal disorder that attacks muscle-controlling nerve cells in the brain and spinal cord.

Researchers at the Ruhr-Universität Bochum (RUB) have developed a new spectroscopic method to support pathologists in diagnosing cancer. In the Journal of Biophotonics and the Analyst they compared conventional procedures for colon cancer identification with a novel method called label-free spectral histopathology. "Contrary to previous methods we no longer have to stain the tissue in order to detect cancer," says Professor Klaus Gerwert from the Protein Research Unit Ruhr within Europe (PURE) at the RUB.

An open access special issue of the International Journal of Global Warming brings together, for the first time, empirical evidence of loss and damage from the perspective of affected people in nine vulnerable countries. The articles in this special issue show how climatic stressors affect communities, what measures households take to prevent loss and damage, and what the consequences are when they are unable to adjust sufficiently.

CHAMPAIGN, Ill. — After taking an in-depth look at the basic biology of a fungus that is decimating bat colonies as it spreads across the U.S., researchers report that they can find little that might stop the organism from spreading further and persisting indefinitely in bat caves.

Their report appears in the journal PLOS ONE.

INVESTIGATING THE GENETIC MECHANISM BEHIND DELUSIONS IN SCHIZOPHRENICS

Wednesday, October 23, 3:30 PM ESTSESSION 15 – Psychiatric Disease: GWAS to GenesRoom 253, Level 2, Convention CenterSpeaker: Mariela Zeledon, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine

Several novel gene variants may help explain the response of patients with chronic obstructive pulmonary disease (COPD) to inhaled bronchodilators, according to a meta-analysis reported today (Oct. 25) at the American Society of Human Genetics 2013 meeting in Boston.

The meta-analysis used statistical methods to combine results from four individual studies with a total of 5,789 Caucasian patients with moderate to severe COPD.

ORLANDO, Fla. —Portable screening devices allow pediatricians to successfully screen children for vision problems, including amblyopia, according to an abstract presented Oct. 25 at the American Academy of Pediatrics (AAP) National Conference and Exhibition in Orlando.

Exercise during gestation has the potential to program vascular health in offspring into their adulthood, in particular significantly altering the vascular smooth muscle, shows a new study published today [25 October] in the journal Experimental Physiology.

The current guidelines for pregnant women recommend thirty minutes of moderate intensity physical activity on most if not all days of the week. Unfortunately, not all physicians are yet convinced that exercise is beneficial for both the pregnant women and their offspring.

Research on the DNA of a large multi-generational family has provided a genetic clue that enabled scientists to pinpoint a gene that plays a role in mitral valve prolapse (MVP), a common cardiac disease that is a leading cause of heart failure, according to a study presented today (Thursday, Oct. 24) at the American Society of Human Genetics 2013 meeting in Boston.

The scientists who located the gene, named DCSH1, also determined how mutations in this gene disrupt the normal embryonic development of the mitral valve, one of the valves that controls blood flow in the heart.

CAMBRIDGE, Mass. (October 24, 2013) – Using a discovery platform whose components range from yeast cells to human stem cells, Whitehead Institute scientists have identified a novel Parkinson's disease drug target and a compound capable of repairing neurons derived from Parkinson's patients.

The platform—whose effectiveness is described in dual papers published online this week in the journal Science—could accelerate the discovery of drug candidates that address the underlying pathology of Parkinson's and other neurodegenerative diseases. Today, no such drugs exist.

An international research consortium led by investigators at Massachusetts General Hospital (MGH) and the University of Chicago has answered several questions about the genetic background of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS), providing the first direct confirmation that both are highly heritable and also revealing major differences between the underlying genetic makeup of the disorders. Their report is being published in the October issue of the open-access journal PLOS Genetics.