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Archive - Jun 2015

June 30th

ASHG Announces Three Co-Winners of 2015 Award for Excellence in Human Genetics Education

The American Society of Human Genetics (ASHG) has named Robert L. Nussbaum, M.D., Chief Medical Officer of Invitae and Clinical Professor of Medicine (Volunteer) at the University of California, San Francisco (UCSF); Roderick R. McInnes, C.M., M.D., Ph.D., Director of the Lady Davis Institute at the Jewish General Hospital and Alva Chair in Human Genetics, Canada Research Chair in Neurogenetics, and Professor of Human Genetics and Biochemistry at McGill University; and Huntington F. Willard, Ph.D., President and Director of the Marine Biological Laboratory and Professor of Human Genetics at the University of Chicago; as the 2015 recipients of its annual Award for Excellence in Human Genetics Education (http://www.ashg.org/pages/awards_overview.shtml#education). The ASHG award recognizes an individual or group for contributions of exceptional quality and importance to human genetics education internationally. Awardees have had long-standing involvement in genetics education, producing diverse contributions of substantive influence on individuals and/or organizations. This year’s award presentation, which includes a plaque and monetary prize, will take place on Friday, October 9, during ASHG’s 65th Annual Meeting (http://www.ashg.org/2015meeting/) in Baltimore, Maryland. The three recipients will make a few remarks after jointly accepting the award.Individually and together, the ASHG Awards Committee noted, each of this year’s recipients is an accomplished geneticist and educator. Over the years, all three awardees have taught regularly, as well as run their own laboratories, and have been involved in program development and/or mentoring at various levels. Dr. Nussbaum has worked on elucidating the genetic basis of disease, including the heritable forms of Parkinson disease, Lowe syndrome, and choroideremia.

ReNeuron Extends Research Collaboration with Benitec Biopharma; Focus Is Use of CTX-Stem-Cell-Derived Exosomes As Delivery System for ddRNAi Gene Silencing in Cancer Therapy

On June 22, 2015, the ReNeuron Group plc (AIM: RENE), a leading UK-based stem cell therapy company, announced the extension of an ongoing research collaboration with Australia-based Benitec Biopharma following positive results in early studies. Researchers at ReNeuron and Benitec, a leader in the field of therapeutics focused on gene silencing, have discovered that ReNeuron’s CTX-stem-cell-line-derived exosomes are potentially an effective delivery system for Benitec’s proprietary DNA-directed RNA inhibition (ddRNAi) gene silencing technology, resulting in the silencing of specific genes in recipient cells to beneficial therapeutic effect. These early studies also indicate that ReNeuron’s CTX stem cells are a more effective producer cell type for this purpose than are mesenchymal cells, a widely used cell type against disease targets in stem cell therapy. Following these exploratory studies, ReNeuron is extending its research collaboration with Benitec in order to further test the potential of this combination technology approach, targeting lung cancer and other drug-resistant cancers. ReNeuron is a first-mover in the field of exosome-based therapeutics and has filed multiple patent applications covering the composition, manufacture, and therapeutic use of its exosome nanomedicine platform. Exosomes are nanoparticles secreted from all cells and which are believed to play a key role in the transfer of beneficial proteins and particularly non-coding RNAs from one cell to another. ReNeuron aims to exploit the therapeutic potential of exosomes derived from its own proprietary stem cell lines. Dr. Peter French, Chief Executive Officer of Benitec, commented: “We are delighted to be working with ReNeuron in this exciting emerging field of gene- and cell-based therapeutics.

Chestnut-Crowned Babbler Birds Combine Meaningless Sounds to Create New Meaningful Signals; Possible Early Step Toward Elaborate Language Systems Used by Humans Today; First Such Example Outside of Humans

Stringing together meaningless sounds to create meaningful signals was previously thought to be the preserve of humans alone, but a new study, published online on June 29, 2015 in the open-access journal PLOS Biology, has revealed that babbler birds are also able to communicate in this way. Researchers at the Universities of Exeter in the UK and of Zurich in Switzerland discovered that the chestnut-crowned babbler – a highly social bird found in the Australian Outback – has the ability to convey new meaning by rearranging the meaningless sounds in its calls. This babbler bird communication is reminiscent of the way humans form meaningful words. The research findings reveal a potential early step in the emergence of the elaborate language systems we use today. Lead author Dr. Sabrina Engesser from the University of Zurich said: “Although previous studies indicate that animals, particularly birds, are capable of stringing different sounds together as part of a complex song, these songs generally lack a specific meaning and changing the arrangement of sounds within a song does not seem to alter its overall message. In contrast to most songbirds, chestnut-crowned babblers do not sing. Instead its extensive vocal repertoire is characterized by discrete calls made up of smaller acoustically distinct individual sounds,” she added. “We think that babbler birds may choose to rearrange sounds to code new meaning because doing so through combining two existing sounds is quicker than evolving a new sound altogether,” said co-author Professor Andy Russell from the University of Exeter, who has been studying the babblers since 2004. The researchers noticed that chestnut-crowned babblers reused two sounds “A” and “B” in different arrangements when performing specific behaviors.

Scripps Scientists Study Role of MicroRNAs in Networks for Learning and Memory in Fly Model; Possible Links to Neurodegenerative Diseases Such As Alzheimer’s and Huntington’s Suggested

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have found that a type of genetic material called “microRNA” (miRNAs) plays surprisingly different roles in the formation of memory in animal models. In some cases, these RNAs increase memory, while in other cases these RNAs decrease memory. “Our systematic screen offers an important first step toward the comprehensive identification of all miRNAs and their potential targets that serve in gene networks important for normal learning and memory,” said Dr. Ron Davis, Chair of TSRI’s Department of Neuroscience, who led the study. “This is a valuable resource for future studies.” The study was published in the June 1, 2015 edition of the journal Genetics. The article is titled “MicroRNAs That Promote or Inhibit Memory Formation in Drosophila melanogaster.” Unlike some types of RNA, miRNAs do not code for proteins, but instead regulate various biological processes by modulating the level of gene expression. A number of studies have shown that miRNAs are critical for normal development and cellular growth and may contribute to the complexity of neurodegenerative diseases. In the new study, 134 different miRNAs were tested for roles in learning and memory in the central nervous system of Drosophila melanogaster, the common fruit fly, which is a recognized animal model for memory studies. The researchers tested the potential involvement of miRNAs in intermediate-term memory by silencing them individually and identified at least five different miRNAs involved in memory formation or retention. “Among the five miRNAs identified in this study, we found one that is necessary for memory formation,” said Research Associate Dr. Germain U. Busto, a first author of the study with Research Associate Dr. Tugba Guven-Ozkan.

Norwegian Scientists Make Progress on Understanding of Celiac Disease

On June 30, 2015, it was announced that Professor Ludvig M. Sollid and his colleagues at the University of Oslo have reportedly established the cause of celiac disease. To do so required really going into depth, right down to molecular level. The scientists first determined that two specific human leukocyte antigens (HLAs) HLA-DQ2 and HLA-DQ8 predispose individuals to celiac disease Professor Sollid explains: "Human leucocyte antigens (HLAs) are found as genetically determined variants in all humans. The task of HLAs is to bind to fragments of proteins that are broken down in the cells, transport the fragments to the cell surface and present them to the T-lymphocytes. The T-lymphocytes, or T-cells, are a particular type of white blood corpuscle that is important to the immune system. The T-cells monitor cells for viral or bacterial infections. They detect infections by finding remnants of viruses or bacteria as fragments bound to HLAs. If any are detected, the immune system will ensure that the infected cell is killed. The T-cells of people with celiac disease think gluten is a virus or bacterium, and therefore cause an immune reaction that we experience as an infection, with associated discomfort," says Professor Sollid. At least 1 % of the inhabitants of Europe have celiac disease. This is a partly hereditary disease that may place considerable strain on patients and their families. If you develop the disease, you have to change your diet and live with the disease for the rest of your life. The immune system of patients with celiac disease reacts to gluten proteins from cereal grains, causing inflammation of the mucous membrane of the small intestine. This reaction to gluten causes the immune system of celiac patients to attack their own bodies.

June 29th

Aromatic Esters and Boronic Acids Used with Nickel Catalyst to Greatly Expand Number of Substrates for Powerful Suzuki-Miyaura Cross-Coupling Reaction; “Beautiful Work in the Frontier of Organic Transformations”

Making carbon-carbon bonds continues to be an important strategy to synthesize useful pharmaceuticals, agrochemicals, and organic materials. Through the global collaboration between WPI-ITbM and NSF-CCHF, chemists have expanded the scope of a Nobel Prize-winning carbon-carbon bond forming reaction by using aromatic esters and boronic acids as coupling partners in the presence of an economically and environmentally friendly nickel catalyst. Esters have been identified to act as a new and clean coupling partner for the carbon-carbon bond forming cross-coupling reaction to make useful compounds for pharmaceuticals, agrochemicals and organic materials. In a new collaborative study published online on June 29, 2015 in an open-access article in Nature Communications, synthetic and theoretical chemists at the Institute of Transformative Bio-Molecules (ITbM), Nagoya University in Japan and the NSF Center for Selective C-H Functionalization (NSF-CCHF) at Emory University in the United States have shown that a relatively inexpensive nickel catalyst triggers the decarbonylative cross-coupling between aromatic esters and boronic acids. The article is titled “Decarbonylative Organoboron Cross-Coupling of Esters by Nickel Catalysis.” The cross-coupling reaction, known as the Suzuki-Miyaura cross-coupling reaction is an extremely powerful strategy to synthesize a variety of significant organic compounds on an industrial scale, thus leading to the Nobel Prize in Chemistry in 2010. The Suzuki-Miyaura cross-coupling reaction is usually catalyzed by a palladium catalyst to couple boronic acids with organic halides. However, while this reaction is very powerful, these reaction partners can generate corrosive waste byproducts. Hence, many groups have been working to develop alternative coupling partners.

UK’s Kay Davies Awarded Prestigious Allan Award from American Society of Human Genetics (ASHG) for Duchenne Muscular Dystrophy and Other Key Genetic Work

The American Society of Human Genetics (ASHG) has named the UK’s Dame Kay E. Davies, D.Phil., the Dr. Lee’s Professor of Anatomy, Associate Head of the Medical Sciences Division; and Director of the Medical Research Council (MRC) Functional Genomics Unit in the Department of Physiology, Anatomy, and Genetics at the University of Oxford, as the 2015 recipient of the annual William Allan Award. The Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics, was established in 1961 in memory of William Allan, M.D. (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Dr. Davies will receive her award, which will include an engraved medal and monetary prize, on Friday, October 9, 2015 during the ASHG’s 65th Annual Meeting (http://www.ashg.org/2015meeting/) in Baltimore, Maryland. She will present her William Allan Award address immediately thereafter. Dr. Davies led early research into Duchenne muscular dystrophy (DMD), a genetic disorder marked by muscle weakness that progresses rapidly. In the 1980s, her research group identified genetic markers that allow prenatal diagnosis and carrier status determination of DMD and mapped the gene coding for DMD to a specific location on the X chromosome. The Davies group also described the gene’s size and deletions in the DNA associated with disease, including a very large deletion of the gene coding for the protein dystrophin found in a patient with mild disease. Follow-up research showed that in mice, introducing the smaller dystrophin gene could prevent disease progression. These observations pioneered the development of dystrophin “minigenes” for the treatment of DMD in people. Dr.

UC Davis Study Examines Causes of California’s High Pediatric Asthma Rates and Proposes Solutions

Low flu vaccination rates, poor medication compliance, and limited access to primary care providers have contributed to the high pediatric asthma rates in California, say University of California (UC) Davis pediatricians Dr. Ulfat Shaikh and Dr. Robert Byrd, who have published an extensive study describing the challenges faced by children with asthma in California. Analyzing data from the 2011-2012 California Health Interview Survey, the study details several issues affecting asthma care and offers a number of public policy strategies that could help remedy these shortcomings. The research was published this week in the journal Population Health Management. "Asthma is one of the most common chronic pediatric conditions in the U.S. and a major reason for emergency department visits and hospitalizations in children," said Dr. Shaikh, Clinical Quality Officer at the California Department of Health Care Services and Director of Healthcare Quality at the UC Davis School of Medicine. "Emergency department visits for chronic conditions such as asthma are frequently the bellwether of sub-optimal primary care and community-based support. However, by creating better support structures around these children, we can have a significant impact on their health and quality of life." To understand the status of asthma in California, the researchers mined data from the most recent California Health Interview Survey, which includes 44,000 households from every county in California. Nearly 10 percent of the state's children, close to 500,000 children, suffer from asthma. The care these children receive can vary widely, even though more than 96 percent have a primary care provider. Most concerning is that their flu vaccination rates are not much different from those for the general pediatric population.

June 25th

Song System Structures Unique to Parrot Brain May Explain Parrots’ Unequaled Ability to Imitate Sounds & Human Speech; Key Structures Had Gone Unrecognized in Last 34 Years of Research

An international team of scientists led by Duke University researchers has uncovered key structural differences in the brains of parrots that may explain the birds' unparalleled ability to imitate sounds and human speech. Described online on June 24, 2015 in the open-access journal PLOS ONE, these brain structures had gone unrecognized in studies published over the last 34 years. The article is titled “Core and Shell Song Systems Unique to the Parrot Brain.” The results also may lend insight into the neural mechanisms of human speech. “This finding opens up a huge avenue of research in parrots, in trying to understand how parrots are processing the information necessary to copy novel sounds and what are the mechanisms that underlie imitation of human speech sounds,” said Dr. Mukta Chakraborty, a post-doctoral researcher in the lab of Dr. Erich Jarvis, an Associate Professor of Neurobiology at Duke and a Howard Hughes Medical Institute Investigator. Parrots are one of the few animals considered “vocal learners,” meaning they can imitate sounds. Researchers have been trying to figure out why some bird species are better imitators than others. Besides differences in the sizes of particular brain regions, however, no other potential explanations have surfaced. By examining gene expression patterns, the new study found that parrot brains are structured differently than the brains of songbirds and hummingbirds, which also exhibit vocal learning. In addition to having defined centers in the brain that control vocal learning called “cores,” parrots have what the scientists call “shells,” or outer rings, which are also involved in vocal learning. The shells are relatively bigger in species of parrots that are well known for their ability to imitate human speech, the group found.

AMSBIO Offers Adipose & Placental Stem Cell-Derived Exosomes As Tools for Regenerative Medicine Work

AMSBIO has announced its launch of a new range of human exosomes for the regenerative medicine tools and technologies market. Derived from placental and adipose-derived stem cells, to ensure consistent high quality, these new products are ideally suited for research involving wound healing, stem cell differentiation, and tissue regeneration. Because few transplanted cells persist in vivo, the beneficial effects of cell therapy may lie in the secreted factors being the active component of this treatment. A key part of paracrine secretion is exosomes, which are membraned vesicles that are stored intracellularly in endosomal compartments and are secreted when these structures fuse with the cell plasma membrane. Exosomes often contain protein, DNA, and RNA, thus making them an attractive vector of paracrine signals delivered by stem cells. Exosomes may also be "loaded" with pre-determined proteins and nucleic acid to achieve a desired effect. Exosomes can be stored as an "off-the-shelf" product having the potential for circumventing many of the limitations of viable cells for therapeutic applications in regenerative medicine. In vitro, exosomes from pre-adipocytes stimulate cell proliferation in a wound-healing model. In vivo, adipose-graft-derived exosomes have been shown to be a promising tool for skin repair and remodeling. All cells have been screened negative for HIV-1, HIV-2, HTLC-1, HTLV-2, Hep-B, Hep-C. All isolated and concentrated exosomes undergo quality control including particle mean diameter, protein concentration, RNA concentration and concentration of particles/ml. AMSBIO’s mission is to be a profitable premier provider of quality life science research reagents and services helping customers develop innovative methods, processes, products, and medicines.