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Archive - Nov 9, 2018

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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.