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Congenital aniridia is a progressive disease that is associated with improper development of eye structures as well as abnormalities in the brain and pancreas. A variety of nonsense mutations in the PAX6 gene are linked with aniridia; however, despite understanding the genetic basis of the disease, few treatment and prevention strategies are available.

Patients with the connective tissue disorder Loeys-Dietz syndrome (LDS) are at high risk for aortic aneurysm. LDS results in the presence of missense mutations within either of the genes encoding receptors for TGF-β. LDS-associated mutations are predicted to reduce TGF-β signaling; however, aortic tissue samples from LDS patients indicate that TGF-β signaling may be enhanced.

An unfortunate side effect of the platinum-chemotherapy drug oxaliplatin is the development of neurotoxicity, which can adversely affect a patient's quality of life; therefore, the benefit of oxaliplatin-based therapy must be balanced with prevention of neuropathies. Currently, there are no therapeutic interventions available to relieve oxaliplatin-associated neurological symptoms, which are thought to be a result of reactive oxygen species-associated damage.

LOS ANGELES – (Dec. 20, 2013) – Mucormycosis is a deadly infection that strikes people with weakened immune systems when certain types of fungi, called Mucorales, invade the patients' cells. A novel protein on the surface of the Mucorales cells, called CotH, makes this invasion possible.

University of British Columbia and Vancouver Coastal Health scientistshave developed a potential cure for a rare eye disease, showing for the firsttime that a drug can repair a birth defect.

They formulated the drug Ataluren into eye drops, and found that it consistently restored normal vision in mice who had aniridia (ANN-uh-ridee-uh), a condition that severely limits the vision of about 5,000 people inNorth America. A small clinical trial with children and teens is expected tobegin next year in Vancouver, the U.S. and the U.K.

The genomes of organisms from humans to corn are replete with "parasitic" strands of DNA that, when not suppressed, copy themselves and spread throughout the genome, potentially affecting health. Earlier this year Brown University researchers found that these "retrotransposable elements" were increasingly able to break free of the genome's control in cultures of human cells. Now in a new paper in the journal Aging, they show that RTEs are increasingly able to break free and copy themselves in the tissues of mice as the animals aged.

Many rare disorders are caused by gene mutation, like sickle cell anemia. Yet until now the underlying genetic cause of more common conditions – for example, rheumatoid arthritis – has evaded scientists for years.

Smokers in England who want to stop smoking are three times more likely to succeed if they see a trained advisor than if they try by themselves, according to a new study published online today in the medical journal Addiction. Worryingly, just buying nicotine patches, gum or other licensed nicotine products from a shop does not seem to improve the chances of quitting.

Jørgen Kjems and Morten Trillingsgaard Venø, Department of Molecular Biology and Genetics and the Interdisciplinary Nanoscience Centre (iNANO), contribute to an article on microRNA-128 just published in Science. In the experiments on mice, it was possible to control the amount of microRNA-128 in specific neurons that react to the signal substance dopamine. "If microRNA-128 is kept down in these neurons in neonatal mice, it results in a strong phenotype," explains Morten T. Venø.

Alexandria, VA – When individuals die in a natural disaster or property damage is costly, can anyone be blamed? After the 2012 conviction of six Italian geoscientists on manslaughter charges related to communication about the hazards prior to the L'Aquila earthquake in 2009, scientists worldwide are keen to understand the risks of their hazards research.

Learning requires constant reconfiguration of the connections between nerve cells. Two new studies now yield new insights into the molecular mechanisms that underlie the learning process.

Thinking about time as a cycle of recurring experiences — a reality Bill Murray's character knows all too well in the movie Groundhog Day — may help us to put more money away into our savings, according to new research. The findings are published in Psychological Science, a journal of the Association for Psychological Science.

"The hand-held platform allows the diagnosis or screening to be performed in a much wider range of settings," Fujimoto said. "Developing screening methods that are accessible to the larger population could significantly reduce unnecessary vision loss."

PHILADELPHIA — Engineered immune cells, called CARTmeso cells, designed to direct antitumor immune responses toward tumors that carry a protein called mesothelin, showed antitumor activity in two patients with advanced cancers that had not responded to prior treatments, according to a study published in Cancer Immunology Research, a journal of the American Association for Cancer Research.

ChroGPS is a software application that serves to facilitate the analysis and understanding of epigenetic data and to extract intelligible information, which can be downloaded free of charge in Bioconductor, a reference repository for biocomputational software.