Syndicate content

Archive - Apr 19, 2017

Underlying Cause of Form of Macular Degeneration Is Characterized

Named for Friedrich Best, who characterized the disease in 1905, Best disease, also known as vitelliform macular dystrophy, affects children and young adults and can cause severe declines in central vision as patients age. The disease is one in a group of conditions known as bestrophinopathies, all linked to mutations in the BEST1 gene. This gene is expressed in the retinal pigment epithelium (RPE), a layer of cells that undergirds and nourishes photoreceptor cells, the rods and cones responsible for vision. Despite the century of work on bestrophinopathies and the identification of genetic mutations responsible for the conditions, no one had identified the underlying mechanism that leads to the vision loss seen in Best disease until now.Using an animal model of Best disease in combination with biochemical and optical assays, a team of researchers at the University of Pennsylvania (Penn) has pinpointed a number of abnormalities that give rise to the impairments seen in the disease. "The genetic cause of the disease has been known for 20 years, but no one had samples of patients at the stage when the disease starts," said Karina E. Guziewicz, Research Assistant Professor of Ophthalmology in Penn's School of Veterinary Medicine (Penn Vet) and lead author on the study. But "we were now able to pinpoint this early stage and find out what factors trigger the development of lesions." The new information sets the team up for testing a gene therapy to treat the disease, as the researchers will be able to observe whether or not these structural and biochemical abnormalities have been corrected. "Now that we understand what we're seeing, it allows us to judge the success of a particular therapy," said Gustavo D. Aguirre, Professor of Medical Genetics and Ophthalmology at Penn Vet.

Cannabis-Based Medicine May Cut Seizures in Half for Those with Difficult-to-Treat Epilepsy; “It May Become an Important New Treatment Option for These Patients," Physician States

Taking cannabidiol may cut seizures in half for some children and adults with Lennox-Gastaut syndrome (LGS), a severe form of epilepsy, according to new information released today from a large-scale controlled clinical study that will be presented at the American Academy of Neurology's 69th Annual Meeting in Boston, April 22 to 28, 2017. Cannabidiol is a molecule from the cannabis plant that does not have the psychoactive properties that create a "high. “ Nearly 40 percent of people with LGS, which starts in childhood, had at least a 50 percent reduction in drop seizures when taking a liquid form of cannabidiol compared to 15 percent taking a placebo. When someone has a drop seizure, their muscle tone changes, causing them to collapse. Children and adults with LGS have multiple kinds of seizures, including drop seizures and tonic-clonic seizures, which involve loss of consciousness and full-body convulsions. The seizures are hard to control and usually do not respond well to medications. Intellectual development is usually impaired in people with LGS.Although the drop seizures of LGS are often very brief, they frequently lead to injury and trips to the hospital emergency room, so any reduction in drop seizure frequency is a benefit. "Our study found that cannabidiol shows great promise in that it may reduce seizures that are otherwise difficult to control," said study author Anup Patel, M.D., of Nationwide Children's Hospital Lisa GW and The Ohio State University College of Medicine in Columbus and a member of the American Academy of Neurology. For the randomized, double-blind, placebo-controlled study, researchers followed 225 people with an average age of 16 for 14 weeks.

International Anthrax Conference to Explore Latest Scientific Research Findings October 1-5 in Victoria, British Columbia

Scientists and researchers from all over the world who work on Bacillus anthracis, the causative agent of anthrax, and on B. cereus and B. thuringiensis, two closely related bacillus species, will be heading to Victoria, British Columbia, in October 2017 for the international conference known as "Bacillus ACT.(link is external)" ( The bi-annual conference, set for October 1-5, will allow members of the scientific community to present their work and meet more than 200 global peers. "World-renowned scientists will present their latest findings -- from studying genomics, cell wall and spore structure and function, gene regulation, sporulation and germination, toxins, epidemiology, ecology, and bacteria-host interactions of these species," said Bacillus ACT 2017 Co-Chair Staci Kane, Ph.D., of Lawrence Livermore National Laboratory (LLNL). In addition, experts working on rapid diagnostics, decontamination, vaccine development, therapeutics, and general physiology will be participating in this conference, which was last held in 2015 in New Delhi, India, Dr. Kane said. "By choosing international destinations, we can tap into local knowledge and bring together global expertise. Friendships and collaborations are formed that may never have happened without people meeting at this conference," she added. Victoria, British Columbia, was chosen because of its access to scientific hubs in Vancouver, Seattle, Portland, and across California. This year's conference is organized by LLNL's Global Security Principal Directorate, which applies multidisciplinary science and technology to anticipate, innovate, and deliver responsive solutions to complex global security needs.

Frog Secreted Peptide Protects Against H1 Influenza Viryus

A component of the skin mucus secreted by South Indian frogs can kill the H1 variety of influenza viruses, researchers from Emory Vaccine Center in Georgia and the Rajiv Gandhi Center for Biotechnology in India have discovered. Frogs' skins were known to secrete "host defense peptides" that defend them against bacteria. The finding, published online on April 18, 2017 in Immunity, suggests that the peptides represent a resource for antiviral drug discovery as well. The article is titled “An Amphibian Host Defense Peptide Is Virucidal for Human H1 Hemagglutinin-Bearing Influenza Viruses.” Anti-flu peptides could become handy when vaccines are unavailable, in the case of a new pandemic strain, or when circulating strains become resistant to current drugs, says senior author Joshy Jacob, Ph.D., Associate Professor of Microbiology and Immunology at Emory Vaccine Center and Emory University School of Medicine. The first author of the paper is graduate student David Holthausen, and the research grew out of collaboration with M.R. Pillai, Ph.D., and Sanil George, Ph.D., from the Rajiv Gandhi Center for Biotechnology. Dr. Jacob and his colleagues named one of the antiviral peptides they identified urumin, after a whip-like sword called "urumi" used in southern India centuries ago. Urumin was found in skin secretions from the Indian frog Hydrophylax bahuvistara, which were collected after mild electrical stimulation. Peptides are short chains of amino acids, the building blocks of proteins. Some anti-bacterial peptides work by punching holes in cell membranes, and are thus toxic to mammalian cells, but urumin was not. Instead, urumin appears to only disrupt the integrity of flu virus, as seen through electron microscopy.