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Researchers Find New Pathway to Regulate Immune Response, Control Diseases; They Show That lncRNA HOTAIR Regulates LPS-Induced Cytokine Expression & Inflammatory Response in Macrophages

Researchers at The University of Texas at Arlington (UTA) have found a potential new pathway to regulate immune response and potentially control inflammatory diseases of the central nervous system such as meningitis and sepsis. "We need to know what turns on inflammatory response to bacterial infection to be able to modulate the process," said Subhrangsu Mandal, PhD, the UTA Associate Professor of Chemistry who led the research. "If we can do so, we can control inflammatory diseases of the central nervous system that have been hard to treat up to now, such as sepsis and meningitis, as well as cancer and muscular dystrophy, which can also be seen a kind of inflammation," he added. The research findings of Dr. Mandal’s team were published online on October 23, 2018 in Scientific Reports. The open-access article is titled “LncRNA HOTAIR Regulates Lipopolysaccharide-Induced Cytokine Expression and Inflammatory Response in Macrophages.” The researchers have found that the long non-coding RNA (lncRNA) molecule HOTAIR present in white blood cells has the capacity to signal these cells to activate immune response in the presence of bacteria. RNA is present in all living cells. Its primary role is to carry instructions from DNA. "Knowing that HOTAIR has a role in the signaling pathway also means that we can use it as a biomarker for bacterial infection," Dr. Mandal added.

POTION Project Will Study Scent of Emotion; Planned Five-Year Project Has 6.5 Million Euros in Funding

What does fear smell like? And happiness? When we feel emotions do we emit substances specific to that particular emotional state which can be “smelled” by our peers? This is certainly true of animals, but for human beings, it has yet to be proven. Enzo Pasquale Scilingo, PhD, Professor of Electronic and Information Bioinformation at the Department of Information Engineering (DII) of the University of Pisa, who heads the Computational Physiology group at the Research Center “E. Piaggio,” is coordinating a project the aim of which is to study whether the emotions we feel lead us to emit specific molecules, identifiable through the sense of smell, by analyzing sweat. The project called POTION has been awarded over 6,500,000 euros, for a period of five years during which time Professor Scilingo will coordinate a consortium of 10 international partners from 8 different countries, each with a scientific profile which is complementary, multidisciplinary and of consolidated experience in the research sector referred to in the themes of the project. A team from the Department of Chemistry and Industrial Chemistry of the University of Pisa, coordinated by Professor Fabio di Francesco, will also be taking part in the project. Their task will be to identify and synthesize the molecules in question, using the most advanced analytical techniques. “POTION aims to study the human capacity to transmit emotions and influence social behaviour through body odor: chemosignals,” explains Professor Scilingo. “When we feel emotions such as happiness and fear, the human body produces chemosignals that are released through sweat and which could be emotionally contagious the moment they are perceived by others.

New Stem Cell Population That Promotes Repair of Spinal Cord Injury Identified by Yale & Pisa Scientists

A team of scientists from the Yale School of Medicine and the Department of Biology at the University of Pisa in Italy has identified a specific stem cell population, known as neuroepithelial stem cells, which have proved to be particularly effective in the repair in animal models of spinal cord injury. The experiment demonstrated that these cells are able to integrate within the damaged tissue, extend processes by a few centimeters after the transplant, and offer motor and functional recovery in the animals subjected to the treatment. Furthermore, as the laboratory tests showed, recovery is proportionate to the extent of the injury: if, for example, the spinal cord damage is not higher than 25%, there is a significant improvement in the use of the lower limbs within two months. “Thanks to this study, it has been demonstrated for the first time that the anatomical origin of stem cells is of vital importance to the success of transplants,” explains Marco Onorati, PhD, a researcher from the University of Pisa and one of the first authors of the study published online on August 24, 2018 in Nature Communications. The open-access article is titled “Human Neuroepithelial Stem Cell Regional Specificity Enables Spinal Cord Repair Through a Relay Circuit.” In fact, while similar in vitro, the neural stem cells which have the same origin as the recipient tissue (in this case the spinal cord) turned out to be much more efficient than those with a diverse origin (for example derived from the brain) at re-establishing connections with the damaged area and guaranteeing the formation of new neuronal circuits. “Not all stem cells have the same potential,” concludes Dr.

ASHG Honors Geneticist Mary-Claire King with Advocacy Award

The American Society of Human Genetics (ASHG) has named Mary-Claire King, PhD, as the 2018 recipient of its Advocacy Award. Dr. King is American Cancer Society Professor of Medicine and Genome Sciences at the University of Washington in Seattle. This award honors individuals or groups who have exhibited excellence and achievement in applications of human genetics for the common good, in areas such as facilitating public awareness of genetics issues, promoting funding for biomedical research, and integrating genetics into health systems. The ASHG presented the award, which includes a plaque and $10,000 prize, on Friday, October 19, 2018 during the organization’s 68th Annual Meeting in San Diego, California. “Best known for her pivotal discoveries in breast cancer genetics, Dr. King has also spent many years as a tireless advocate for the use of genetics to help people and families around the world,” said David L. Nelson, PhD, President of ASHG. “This award recognizes her efforts to devise and implement solutions to real-world, societal challenges using genetic technologies.” Since 1983, Dr. King’s lab at the University of Washington has partnered with the Grandmothers of the Plaza de Mayo in Argentina to reunite families using genetics. Together, they identify children who were kidnapped as infants after their parents were murdered during the Argentinean military dictatorship of 1975-1983. For this purpose, Dr. King developed mitochondrial DNA (mtDNA) sequencing to match kidnapped children to possible maternal relatives. Over the past 35 years, her lab has helped reunite 130 families. Since the 1990s, Dr.

Researchers in Spain Discover Influence of Exosomes on Macular Degeneration; Findings Suggest Possible Exosome-Based Liquid Biopsy for Diagnosis of AMD & Other Diseases

Researchers of the Neurobiology and Neurophysiology team of the Medicine Faculty at Valencia Catholic University (UCV), headed by Dr. Jorge Bacia, have discovered that exosomes – microscopic extracellular vesicles that are released by all cells – from the retinal pigment epithelium lead to cases of neovascularization, a finding that could be closely related to similar processes in age-related macular degeneration (AMD). In this sense, the UCV researchers say that, in the future, diseases such as AMD will be diagnosed by “analyzing the exosomal content from a blood sample or other biological fluids.” The UCV Medicine Faculty team findings were published online on August 21, 2018 in the Journal of Cellular and Molecular Medicine. The open-access article is titled “Role of Retinal Pigment Epithelium‐Derived Exosomes And Autophagy In New Blood Vessel Formation.” In the article, the UCV researchers explain how they observed that “if the pigment epithelium cells in the retina are subjected to stress, they release exosomes that facilitate the generation of new blood vessels, in an analogous way to what happens in AMD.” This excessive vessel growth is due to these exosomes containing “a high proportion of the VEGFR-2 protein.” AMD is a disease that causes vision loss and affects elderly people. The disease often becomes apparent with an ‘overgrowth’ of new blood vessels in this area, “vessels which are fragile and very permeable, creating alterations which lead to spots in central vision.” This process especially affects the macula, the retinal area which is responsible for acute vision, “which makes detailed vision more difficult, such as reading”.

PNA-Based Gene Editing Technique Cures Genetic Disorder in Utero in Mouse Model; Technique Show No Off-Target Effects Suggesting Advantage Over CRISPR/Cas9 for Clinical Uses

Researchers at Carnegie Mellon University and Yale University have, for the first time, used a gene editing technique to successfully cure a genetic condition in utero in a mouse model. Their findings, published online on June 26, 2018 in Nature Communications, present a promising new avenue for research into treating genetic conditions during fetal development. The open-access article is titled “In Utero Nanoparticle Delivery for Site-Specific Genome Editing.” An estimated 8 million children are born each year with severe genetic disorders or birth defects. Genetic conditions can often be detected during pregnancy using amniocentesis, but there are no treatment options to correct these genetic conditions before birth. “Early in embryonic development, there are a lot of stem cells dividing at a rapid pace. If we can go in and correct a genetic mutation early on, we could dramatically reduce the impact the mutation has on fetal development or even cure the condition,” said Danith Ly, PhD, Professor of Chemistry in Carnegie Mellon’s Mellon College of Science. In this study, the researchers used a peptide nucleic acid-based gene editing technique (https://www.cmu.edu/mcs/news-events/2016/1026-Gene-Editing-PNA.html) that they had previously used to cure beta thalassemia, a genetic blood disorder that results in the reduced production of hemoglobin, in adult mice, using intravenous administration of the PNAs. Peptide nucleic acids (PNAs) are synthetic molecules that combine a synthetic protein backbone with the nucleobases found in DNA and RNA. The PNAs used in this study were created by Dr. Ly at Carnegie Mellon’s Center for Nucleic Acids Science and Technology (CNAST), a leading center for PNA science. Their technique uses an FDA-approved nanoparticle to deliver PNA molecules paired with donor DNA to the site of a genetic mutation.

Eminenent Geneticist Eric S. Lander Honored with 2018 William Allan Award from American Society of Human Genetics (ASHG)

The American Society of Human Genetics (ASHG) has named Eric S. Lander, PhD, President and Founding Director of the Broad Institute of MIT and Harvard, the 2018 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, MD (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Dr. Lander received his award, which included an engraved medal and $25,000 prize, on Thursday, October 18, 2018, during ASHG’s 68th Annual Meeting in San Diego, California. He presented his William Allan Award address immediately thereafter. Dr. Lander has been a major leader in the study of the human genome and in the Human Genome Project. In 1986, he and David Botstein, PhD, laid out fundamental ideas for key methods in human genetics—including for linkage disequilibrium mapping in populations, which has enabled the discovery of genes underlying common polygenic traits by genome-wide association studies. From this work, Dr. Lander saw the need for a detailed genetic map of the human genome. He then played a central role in creating the genetic, physical, and sequence maps of the human and mouse genomes. He also led efforts to discover millions of single-nucleotide polymorphisms (SNPs), which have enabled efficient mapping of genes related to human diseases, including more than 30,000 loci underlying common diseases and traits. Dr. Lander helped pioneer the use of genome-wide expression analysis to characterize tumors. This initial work led to the creation of The Cancer Genome Atlas (TCGA), a comprehensive catalog of cancer genes that defines and details the molecular architecture of the most common human malignancies.

Extraordinary Physician-Scientist James Lupski Honored with Victor A. McKusick Leadership Award from American Society of Human Genetics

The American Society of Human Genetics (ASHG) has named James R. Lupski, MD, PhD, as the 2018 recipient of the Victor A. McKusick Leadership Award. Dr. Lupski is Cullen Professor of Molecular & Human Genetics and Professor of Pediatrics at Baylor College of Medicine and attending medical geneticist at Texas Children’s Hospital in Houston, Texas. This award, named in honor of the late Victor A. McKusick, MD, of Johns Hopkins, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine, and health. The ASHG presented the McKusick Award, which will include a plaque and $10,000 prize, to Dr. Lupski on Tuesday, October 16, during the organization’s 68th Annual Meeting in San Diego, California. “I knew Victor McKusick quite well and have had many meaningful scientific discussions with him,” said Dr. Lupski. “He was a terrific physician-scientist, visionary, and true leader, and this award in his name is a tremendous honor for me.” Dr. Lupski’s research focuses on understanding mutational mechanisms and linking specific mutations and genes to human disease. Dr. Lupski started his laboratory at Baylor College of Medicine in 1989, where he still resides. His most significant contributions to genomics are centered around conceptualizing and understanding the mechanisms underlying genomic disorders. This is seen through his studies of Charcot-Marie Tooth (CMT) disease – specifically, duplication of the CMT1A gene. In 1991, Dr. Lupski showed that CMT1A copy number variation (CNV) and gene dosage are causes of CMT-related peripheral nerve dysfunction. In 2014, he and his colleagues found that the presence of three copies of CMT1A on one chromosome 17, a phenomenon known as triplication, causes a more severe form of CMT. Dr.

Brain Signature of Depressed Mood Unveiled in New Study--Powerful Link Between Mood-Associated Beta Waves in Amygdala & Hippocampus Seen in Those with High Pre-Existing Anxiety

Most of us have had moments when we're feeling down -- maybe we can't stop thinking about our worst mistakes, or our most embarrassing memories – but, for some, these poor mood states can be relentless and even debilitating. Now, new research from the University of California-San Francisco (UCSF) has identified a common pattern of brain activity that may be behind those feelings of low mood, particularly in people who have a tendency towards anxiety. The newly discovered network is a significant advance in research on the neurobiology of mood, and could serve as a biomarker to help scientists developing new therapies to help people with mood disorders such as depression. Most human brain research on mood disorders has relied on studies in which participants lie in an fMRI scanner and look at upsetting images or listen to sad stories. These studies have helped scientists identify brain areas associated with emotion in healthy and depressed individuals, but they don't reveal much about the natural mood fluctuations that people experience over the course of a day or provide insight into the actual mechanisms of brain activity underlying mood. Newly published research by UCSF Health neurosurgeon and neuroscientist Edward Chang, MD, and psychiatrist and neuroscientist Vikaas Sohal, MD, PhD -- both members of the UCSF Weill Institute for Neurosciences and the recently launched UCSF Dolby Family Center for Mood Disorders -- has begun to fill these gaps in our understanding of the neuroscience of mood by continuously recording brain activity for a week or more in human volunteers and linking their day-to-day mood swings to specific patterns of brain activity.

Illumina to Acquire Pacific Biosciences for $1.2 Billion, Broadening Access to Long-Read Sequencing & Accelerating Scientific Discovery--Conference Call Replay Available Through November 8

On November 1, 2018, Illumina, Inc. (NASDAQ: ILMN) and Pacific Biosciences (NASDAQ:PACB) announced they have signed an agreement for Illuminato acquire Pacific Biosciences at a price of $8.00 per Pacific Biosciences share in an all-cash transaction. This price represents a premium of 71% to Pacific Biosciences’ 30 trading day volume weighted average share price as of the market close on October 31st, 2018, and a total enterprise value of approximately $1.2 billion on a fully diluted basis. The agreement has been approved by the boards of directors of Illumina and Pacific Biosciences. The acquisition complements Illumina sequencing solutions with accurate long-read sequencing capabilities to answer a set of complex genomic questions. While Illumina’s accurate and economic short-read sequencing platforms address the majority of sequencing applications optimally, select applications, such as de novo sequencing and sequencing of highly homologous regions of genomes, are better addressed with accurate long-reads. With its acquisition of Pacific Biosciences, Illumina will be positioned to provide integrated workflows and novel innovations that bring together the best of both technologies to help researchers advance their discoveries faster and clinicians offer new tests economically. “PacBio’s unmatched accuracy mirrors that of Illumina’s in short-read sequencing. Combining the two technologies positions us to reach more applications, accelerate the pace of genomic discovery and bolster our innovation engine which has been a hallmark of Illumina since our inception,” said Francis deSouza, President and CEO of Illumina. “PacBio’s relentless pursuit to improve sequencing accuracy, while driving down the cost, underscores the potential of long-reads to expand sequencing to new customers and applications.”

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