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Archive - Apr 2017

April 25th

Freshman Takes Top Honors in ASHG’s 2017 National DNA Essay Contest for High School Students

In recognition of National DNA Day, the American Society of Human Genetics (ASHG) hosted the 2017 DNA Day Essay Contest to encourage high school students and teachers to learn about human genetics concepts beyond the standard curriculum. This year, ASHG awarded first place to Adele Peng (at left in photo with her teacher Aubrie Holman at right), a freshman at Thomas Jefferson High School for Science and Technology in Alexandria, Virginia. Sophia Spiegel, a junior at Bergen County Academies in Hackensack, New Jersey., won second place in the contest. Alvin Ya, a senior at Poolesville High School in Poolesville, Maryland, was awarded third place. “Recent advances in biology have made gene therapy, the focus of this year’s contest, more promising than ever, and have expanded the field beyond its original concept,” said Michael Dougherty, PhD, Director of Education for ASHG. “We were interested to see students’ perspectives on these advances and their potential effects in the clinic.” National DNA Day, celebrated annually on April 25, commemorates the discovery of DNA’s double helix structure and the completion of the Human Genome Project, two key milestones in the field of genetics. Each year since 2006, ASHG has run a DNA Day Essay Contest to challenge students to examine, question, and reflect on important concepts in human genetics by writing an original essay. Winning essays use well-reasoned arguments to show a grasp of topics that are not always well-covered in high school biology courses. This year, the contest invited students to choose one modern example of gene therapy, describe the disease or condition researchers are attempting to treat, and explain how the therapy/approach might repair the underlying cause of the disease or condition. Students from 38 U.S. states and 21 non-U.S. countries submitted essays to the contest this year.

Novel “Enveloping” Mechanism of Prodrug Tramiprosate Inhibits Aß42 Amyloid Misfolding and Blocks Toxic Amyloid Oligomer Formation Early in Pathogenic Amyloid Aggregation Cascade Seen in Alzheimer’s Disease

On April 25, 2017, Alzheon, Inc. announced publication of a newly elucidated molecular mechanism of action for tramiprosate, the active agent in the company's lead clinical drug candidate, ALZ-801. The company's Phase 3-ready candidate ALZ-801 is an optimized prodrug of tramiprosate, with a substantially improved pharmacokinetic and safety profile compared to tramiprosate. Alzheon scientists discovered that tramiprosate acts to inhibit the production of neurotoxic beta amyloid oligomers by “enveloping” the amyloid peptide to prevent its misfolding into soluble amyloid aggregates. Beta amyloid oligomers are believed to be key drivers of the pathogenic process in Alzheimer's disease (AD). This novel enveloping mechanism of tramiprosate prevents the self-assembly of misfolded proteins into beta amyloid oligomers that lead to amyloid aggregation and, subsequently, cause neuronal toxicity and clinical progression in Alzheimer's disease. These peer-reviewed results were published online on April 24, 2017 in the medical journal CNS Drugs, and the paper is available through open access at: https://link.springer.com/article/10.1007/s40263-017-0434-z. The article is titled “Elucidating the Aβ42 Anti-Aggregation Mechanism of Action of Tramiprosate in Alzheimer’s Disease: Integrating Molecular Analytical Methods, Pharmacokinetic and Clinical Data.” "While we have recognized for nearly four decades that amyloid plaques are the hallmark of Alzheimer's disease, the emerging insights are pointing to small protein aggregates that exhibit many of the properties of prions, as the key driver of neuronal degeneration," said Stanley B. Prusiner (photo) , MD, Nobel Laureate, Director, Institute for Neurodegenerative Diseases at the University of California-San Francisco (UCSF) and Chair of Alzheon's Scientific Advisory Board.

April 24th

Exosomes Carrying Pathogen Material Are More Rapidly Taken Up in Lymph Nodes Than Control Exosomes

Exosomes, tiny sub-cellular vesicles smaller than red blood cells, were once thought of as molecular trash bins. And it’s true, these nanoparticles do carry off a cell’s discarded material. But now it is known that exosomes can also include can mRNAs, micro RNAs, and proteins,and that exosomes help to carry out the critical cell-to-cell communication that multicellular organisms depend on for survival. Not only can exosomes communicate and provide transport over long distances – they also happen to be in the ideal size range for lymphatic transport, a concept that has long captivated Dr. Brandon Dixon and Dr. Fred Vannberg, researchers in the Petit Institute for Bioengineering and Bioscience in the Georgia Institute of Technology, and others interested in the future of lymphatic targeted drug delivery systems. Last year (2016), Dr. Dixon and Dr. Vannberg collaborated on a groundbreaking research paper (see link below) in the Nature journal, Scientific Reports, entitled, “Lymphatic Transport of Exosomes As a Rapid Route of Information Dissemination to the Lymph Node.” Their results suggested that exosomes facilitate the rapid exchange of infection-specific information from peripheral tissue to the lymph node, essentially priming the node for an effective innate immune response. The scientists’ latest paper, “TLR-Exosomes Exhibit Distinct Kinetics and Effector Function,” published recently in the same journal (Scientific Reports, online March 14, 2017), digs deeper, making a striking new discovery along the way: Exosomes move with what looks like an increased sense of urgency depending on their payload. “Not only do we find out that these exosomes can inform the node of what kind of specific immune response to initiate – is it viral, or a bacterial infection?

Scientists Show That Increased RNA-Binding Protein GRP8 Results in Longer and More Root Hairs, Leading to Increased Uptake & Transport of Phosphorus, and to Larger Plants

The function of a plant's roots go well beyond simply serving as an anchor in the ground. The roots act as the plant's mouth, absorbing, storing, and channeling water and nutrients essential for survival. Researchers have devoted tremendous effort to engineering plants that are more effective at these tasks in order to develop hardier forms that can withstand drought or low-nutrient conditions. In a new investigation, researchers from the University of Pennsylvania (Penn) have taken another step toward achieving this goal. They identified two proteins that regulate whether a cell in plant roots forms a hair cell, which increases surface area for absorption, or a non-hair cell. Plants that overexpressed one of these regulators thrived despite being deprived of a key nutrient, phosphorus. "Normally plants respond to phosphorus deprivation by becoming smaller, which means less biomass, less food production, and less seed production," said Brian Gregory, Ph.D., an Associate Professor in the Department of Biology in Penn's School of Arts & Sciences and senior author on the paper. "The intriguing thing is, by overexpressing one of these proteins we identify GRP8, we were able to produce plants that don't show this kind of dwarfing nearly as significantly as normal plants under phosphorus starvation. That's the exact phenotype we want." Such plants, which produce more hair cells and thus can more readily absorb water from the soil, could also do well under conditions predicted to be more prevalent under climate change, notably in widespread droughts. The lead author of the work, which was published in the April 24, 2017 issue of Developmental Cell, is Dr. Shawn W. Foley, a recent Ph.D. recipient in the Cell and Molecular Biology Graduate Program of Penn's Perelman School of Medicine.

Wax Worm Caterpillar Found to Degrade Plastic at Rapid Rate; Potential Seen for Biotechnology Solution to Managing Polyethylene Waste on Industrial Scale

Scientists have found that a caterpillar commercially bred for fishing bait has the ability to biodegrade polyethylene: one of the toughest and most used plastics, frequently found clogging up landfill sites in the form of plastic shopping bags. The wax worm, the larvae of the common insect Galleria mellonella, or greater wax moth, is a scourge of beehives across Europe. In the wild, the worms live as parasites in bee colonies. Wax moths lay their eggs inside hives where the worms hatch and grow on beeswax - hence the name. A chance discovery occurred when one of the scientific team, Dr. Federica Bertocchini, an amateur beekeeper, was removing the parasitic pests from the honeycombs in her hives. The worms were temporarily kept in a typical plastic shopping bag that became riddled with holes. Dr. Bertocchini, from the Institute of Biomedicine and Biotechnology of Cantabria (CSIC), Spain, collaborated with colleagues Dr. Paolo Bombelli and Dr. Christopher Howe at the University of Cambridge's Department of Biochemistry to conduct a timed experiment. Approximately 100 wax worms were exposed to a plastic bag from a UK supermarket. Holes started to appear after just 40 minutes, and after 12 hours there was a reduction in plastic mass of 92 mg from the bag. Scientists say that the degradation rate is extremely fast compared to other recent discoveries, such as bacteria reported last year to biodegrade some plastics at a rate of just 0.13mg a day. "If a single enzyme is responsible for this chemical process, its reproduction on a large scale using biotechnological methods should be achievable," said Cambridge's Dr. Bombelli, first author of the study published today (April 24, 2017) in the journal Current Biology.

STING-Activating Nanovaccine Shows Anti-Tumor Efficacy in Multiple Cancer Types in Mice

Researchers from the University of Texas (UT) Southwestern Medical Center have developed a first-of-its-kind nanoparticle vaccine immunotherapy that targets several different cancer types. The nanovaccine consists of tumor antigens – tumor proteins that can be recognized by the immune system – inside a synthetic polymer nanoparticle. Nanoparticle vaccines deliver minuscule particulates that stimulate the immune system to mount an immune response. The goal is to help people’s own bodies fight cancer. “What is unique about our design is the simplicity of the single-polymer composition that can precisely deliver tumor antigens to immune cells while stimulating innate immunity. These actions result in safe and robust production of tumor-specific T cells that kill cancer cells,” said Dr. Jinming Gao, a Professor of Pharmacology and Otolaryngology in UT Southwestern’s Harold C. Simmons Comprehensive Cancer Center. A study outlining this research, and published online on April 24, 2017 in Nature Nanotechnology, reported that the nanovaccine had anti-tumor efficacy in multiple tumor types in mice. The article is titled “A STING-Activating Nanovaccine for Cancer Immunotherapy.” The research was a collaboration between the laboratories of study senior authors Dr. Gao and Dr. Zhijian “James” Chen, Professor of Molecular Biology and Director of the Center for Inflammation Research at UT Southwestern. The Center was established in 2015 to study how the body senses infection and to develop approaches to exploit this knowledge to create new treatments for infection, immune disorders, and autoimmunity. Typical vaccines require immune cells to pick up tumor antigens in a “depot system” and then travel to the lymphoid organs for T cell activation, Dr. Gao said.

Annual ISEV Meeting on Extracellular Vesicles (Including Exosomes) in Toronto May 17-21

The annual meeting of the International Society for Extracellular Vesicles (ISEV 2017) (https://isev.site-ym.com/), will take place from May 17-21 in Toronto, Canada, and will offer an unparalleled opportunity to network with, and learn from, the preeminent leaders in extracellular vesicle (EV) research. To register for this meeting, please click here (https://isev.site-ym.com/page/ISEV2017Registration). The scope and quality of the anticipated scientific exchange make ISEV 2017 the largest and the premier meeting in EV research in the world. This event features five days of the best in vesicle science covering all aspects of basic, clinical, and translational research. The research theme includes diverse areas of science encompassing rare and neglected diseases, infectious disease, coagulation, cancer, neuroscience, cardiovascular studies, immunology, regenerative medicine, virology, parasitology, and more. The overall theme of ISEV 2017 is “Diversity of EV Composition and Function in Disease Diagnosis and Therapeutics.” Amidst growing interest in the promise of EVs in disease detection and treatment, ISEV 2017 will bring scientists and clinicians in medical and biotechnology communities together to translate their research. No other meeting in the world offers the scope, participation level, and thematic focus of ISEV 2017 concentrating and cross-pollinating scientific investigations in the field of disease biomarkers and therapeutic tools by disseminating cutting-edge developments in EV research. Among the plenary speakers scheduled to address the meeting are Clotilde Thery, Ph.D. (Research Director, Institut Curie), Philip Stahl, Ph.D. (Professor Emeritus of Cell Biology and Physiology, Washington University School of Medicine), Thomas Thum M.D., Ph.D. (Professor of Cardiology, Imperial College-London), Jeff Wrana, Ph.D.

Rab32 Protein Connects ER Stress to Mitochondrial Defects in Multiple Sclerosis; Protein Accumulates in Brain Tissue of MS Patients, But Is Virtually Absent in Unaffected Individuals

A new study has made a major new discovery towards possibly finding the cause of multiple sclerosis (MS), potentially paving the way for research to investigate new treatments. Ahead of MS Awareness Week, which starts today (Monday April 24), an international team involving the University of Exeter Medical School (UK) and the University of Alberta (Canada) has discovered a new cellular mechanism-- an underlying defect in brain cells -- that may cause the disease, and mey be a potential hallmark that may be a target for future treatment of the autoimmune disorder. The study was published online on January 23, 2017 in the Journal of Neuroinflammation. The open-access article is titled “Rab32 Connects ER Stress to Mitochondrial Defects in Multiple Sclerosis.” Professor Paul Eggleton, of the University of Exeter Medical School, said: "Multiple sclerosis can have a devastating impact on people's lives, affecting mobility, speech, mental ability, and more. So far, all medicine can offer is treatment and therapy for the symptoms - as we do not yet know the precise causes, research has been limited. Our exciting new findings have uncovered a new avenue for researchers to explore. It is a critical step, and, in time, we hope it might lead to effective new treatments for MS." Multiple sclerosis affects approximately 2.5 million people around the world. Typically, people are diagnosed in their 20s and 30s, and it is more common in women than men. Although the cause has so far been a mystery, the disease causes the body's own immune system to attack myelin - the fatty "sheaths" that protect nerves in the brain and spinal cord. This leads to brain damage, a reduction in blood supply and oxygen and the formation of lesions in the body.

April 23rd

Anatomy of Star-Nosed Mole Yields Surprising Insights About Nerves, Brains, and Extreme Adaptation

A quarter-century of research on the star-nosed mole has unearthed startling insights into the evolution of animal behavior and the limits of physiology. Kenneth Catania, Ph.D., of Vanderbilt University presented a new synthesis of remarkable anatomical findings about the star-nosed mole at the American Association of Anatomists annual meeting during the Experimental Biology 2017 meeting, being held April 22-26 in Chicago. "Star-nosed moles are truly amazing animals," said Dr. Catania, a neuroscientist who's interest in the creature was first piqued while working as an undergraduate research assistant at the National Zoo in Washington, D.C. "Obviously they are among the weirdest looking creatures on the planet. But when I began trying to understand the star, the mole's brain organization, and its behavior--that's when things got really surprising." They eat faster than any other mammal on Earth: Star-nosed moles can identify and eat food (bugs, mostly) in less than two-tenths of a second, taking a mere 8 milliseconds to decide whether an item is edible or not. They perform this feat in part due to the extremely efficient operation of their nervous systems, which convey information from the environment to the animal's brain at speeds approaching the physiological limit of neurons. It also helps tha their star is the most sensitive known touch organ in any mammal. The distinctive star organ on the mole's snout contains more than 100,000 nerve fibers--five times the number of "touch" fibers in the human hand, all packed into a space smaller than your fingertip. "The star skin is so sensitive that we have not been able to determine the lowest threshold for activating neurons," said Dr. Catania, adding that studying the star could provide insights that improve our understanding of the human sense of touch.

April 22nd

Statistical Analysis of Cancer Patient Data, Looking for Mutations Shared by Similar Domains in Different Proteins, Reveals Thousands of Rare Mutations Linked with Cancer; Researchers Coin New Term “Oncodomain”

Scientists have identified thousands of previously ignored genetic mutations that, although rare, likely contribute to cancer growth. The findings, which could help pave the way to new treatments, were published online on April 20, 2017 in the open-access journals PLOS Computational Biology. The article is titled “Oncodomains: A Protein Domain-Centric Framework for Analyzing Rare Variants in Tumor Samples.” Cancer arises when genetic mutations in a cell cause abnormal growth that leads to a tumor. Some cancer drugs exploit this to attack tumor cells by targeting proteins that are mutated from their usual form because of mutations in the genes that encode them. However, only a fraction of all the mutations that contribute significantly to cancer have been identified. Thomas Peterson, Ph.D., at the University of Maryland, and colleagues developed a new statistical analysis approach that uses genetic data from cancer patients to find cancer-causing mutations. Unlike previous studies that focused on mutations in individual genes, the new approach addresses similar mutations shared by families of related proteins. Specifically, the new method focuses on mutations in sub-components of proteins known as protein domains. Even though different genes encode them, different proteins can share common protein domains. The new strategy draws on existing knowledge of protein domain structure and function to pinpoint locations within protein domains where mutations are more likely to be found in tumors. Using this new approach, the researchers identified thousands of rare tumor mutations that occur in the same domain location as mutations found in other proteins in other tumors-- suggesting that they are likely to be involved in cancer.