Genetic Testing and Common Disorders in a Public Health Framework: How to Assess Relevance and Possibilities
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An Introduction to the CDC Public Health Genomics Knowledge Base
Division of Public Health Information Dissemination Center for Surveillance, Epidemiology, and Laboratory Services An Introduction to the CDC Public Health Genomics Knowledge Base Marta Gwinn, Dave Dotson, Wei Yu & Ridgely Fisk Green Office of Public Health Genomics Division of Public Health Information Dissemination CDC Office of Public Health Genomics (OPHG) Effective and responsible translation of genome-based discoveries into disease prevention and population health https://www.cdc.gov/genomics 1. Identify 2. Inform 3. Integrate evidence-based applications and communicate into practice & programs OPHG, DPHID, CSELS CDC Information Database Why did we build it? . Challenge: Finding information about genomics- and family health history-related activities at CDC . Opportunity: Provide a centralized, searchable, publicly available database for CDC resources related to genomics and family health history CDC-Authored Genomics Publications Database Why did we build it? . Challenge: Finding CDC-authored publications on genomics and family health history . Opportunity: Provide a centralized, searchable, publicly available database for these CDC publications . Challenge: CDC’s work in genomics and family health history is not well known . Opportunity: Showcase CDC publications to highlight work related to genomics and family health history CDC-Authored Genomic Publications Database continued . Scientific articles and reports with at least one CDC author . CDC Science Clips: https://www.cdc.gov/library/sciclips/ . PubMed . Scopus affiliation search . Author notifications Genomics and Health Impact Scan Database Why did we build it? . Challenge: Keeping up with the latest developments in genomics and family health history relevant to public health . Opportunity: Identify the latest publications and other resources on population-based applications of genomic discoveries . -
The Patentability of Synthetic Organisms
Creating Life from Scratch: The Patentability of Synthetic Organisms Michael Saunders* I. INTRODUCTION ................................................................................... 75 II. PATENTING MICROBIAL LIFE—CHAKRABARTY ................................ 77 III. PATENTING MULTICELLULAR LIFE—HARVARD ONCOMOUSE .......... 80 IV. IMPLICATIONS FOR SYNTHETIC BIOLOGY .......................................... 83 A. Single-Celled Synthetic Organisms ......................................... 83 B. Multicellular Synthetic Organisms .......................................... 86 V. CONCLUSIONS ..................................................................................... 88 I. INTRODUCTION Published in May 2007, U.S. application no. 20070122826 (Venter patent) describes a minimally operative genome of the bacterium Mycoplasma genitalium consisting of 381 genes, which the inventors believe to be essential for the survival of the bacterium in an environment containing all the necessary nutrients and free from stress.1 However, the team of inventors from the J. Craig Venter Institute is trying to accomplish something more than just the usual patenting of genes; they intend to create and patent the world’s first artificial organism. The team has already cleared two of the three major hurdles on its way to constructing this first synthetic organism. In January 2008, they announced completion of the second step, the laboratory synthesis of the entire 582,970 base pairs of the genome described in the patent above.2 What remains is the third and final step of inserting this human-made genome into a bacterial cell chassis and “booting up” the organism.3 Craig Venter and Hamilton Smith, lead researchers on the team have been discussing the creation of synthetic life since 1995, when their team published the first complete genome sequence of a living * © 2008 Michael Saunders. J.D. candidate 2009, Tulane University School of Law; B.S. 2003, Bucknell University. 1. -
10 Harvard Mouse
The Harvard Mouse or the transgenetic technique Term Paper Biology Georgina Cibula, 4e LIST of Contents Preface What is my motivation to work on the chosen topic? What is especially interesting? What are our questions with respects to the chosen topic? Introduction What is the context of the chosen topic? What is the recent scientific history? Where and why is the technique used? Are there alternatice treatments? Description of engineering technique No institution visited Discussion What progress was made with the application of the chosen technique? What future research steps? Ethical aspects Summary References PREFACE What is my motivation to work on the chosen topic? There are many reasons. One of them is that it’s a very interesting topic. It is fascinating, how you can increase or decrease the functionality of organisms. What is especially interesting? The intricacy. And that you can use the method not only for mice but for every organism. For example in the Green genetic engineering (to make plants more resistant) or for pharmaceuticals like human insulin. Some genes are responsible for the aging process. So if we can find those genes and deactivate them we would life longer. First successful experiments with animals where already made. What I also like about this topic is the big ethic question behind it. I mean in the end we use animals, often mice because of their similarity to our genes, to benefit of them. We intentional make them ill and lock them into small cages. But on the other hands medicaments can be tested or invented which can save many human lifes. -
View Eposter
Combined glucocorticoid and mineralocorticoid deficiency related to a new NNT mutation : a case report E.Doye 1, CL.Gay 1, S.Castets 1, F.Roucher-Boulez 2, Y.Morel 2, I.Plotton 2, M.Nicolino 1 1 CHU Hospices Civils de Lyon, Service d’Endocrinologie Pédiatrique, Lyon, France ; 2 Hospices Civils de Lyon, Laboratoire d’Endocrinologie Moléculaire et Maladies Rares, Lyon, France BACKGROUND OBJECTIVE Familial glucocorticoid deficiency is an autosomal recessive disorder To describe a new case of familial characterized by specific failure of adrenocortical glucocorticoid glucocorticoid deficiency with combined production in response to adrenocorticotropic hormone (ACTH). mineralocorticoid insufficiency and extra Mutations of the NNT (nicotinamide nucleotide transhydrogenase) adrenal manifestations. gene have recently been implicated in familial glucocorticoid deficiency. RESULTS Suffering from a febrile viral respiratory Diagnosis : during At one month At six months disease, an eight-month-old boy presented hypoglycémia and with status epilepticus caused by severe hypotension hypoglycemia. Multiple medical complications occurred, and invasive ventilation was Natremia (mmol/L) 135 126 136 required for 18 days. The results of blood tests performed during hypoglycemia revealed ACTH (ng/L) 1382 >2000 >2000 adrenal insufficiency. Renin and aldosterone Cortisol (nmol/L) <20 - <20 levels were high but considered consistent Renin (ng/L) 2880 278 177 with the mild hyponatremia and severe hypotension. Subsequent measurements Aldosterone (pmol/L) - 179 72 -
NNT Mutations: a Cause of Primary Adrenal Insufficiency, Oxidative Stress and Extra- Adrenal Defects
175:1 F Roucher-Boulez and others NNT, adrenal and extra-adrenal 175:1 73–84 Clinical Study defects NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra- adrenal defects Florence Roucher-Boulez1,2, Delphine Mallet-Motak1, Dinane Samara-Boustani3, Houweyda Jilani1, Asmahane Ladjouze4, Pierre-François Souchon5, Dominique Simon6, Sylvie Nivot7, Claudine Heinrichs8, Maryline Ronze9, Xavier Bertagna10, Laure Groisne11, Bruno Leheup12, Catherine Naud-Saudreau13, Gilles Blondin13, Christine Lefevre14, Laetitia Lemarchand15 and Yves Morel1,2 1Molecular Endocrinology and Rare Diseases, Lyon University Hospital, Bron, France, 2Claude Bernard Lyon 1 University, Lyon, France, 3Pediatric Endocrinology, Gynecology and Diabetology, Necker University Hospital, Paris, France, 4Pediatric Department, Bab El Oued University Hospital, Alger, Algeria, 5Pediatric Endocrinology and Diabetology, American Memorial Hospital, Reims, France, 6Pediatric Endocrinology, Robert Debré Hospital, Paris, France, 7Department of Pediatrics, Rennes Teaching Hospital, Rennes, France, 8Pediatric Endocrinology, Queen Fabiola Children’s University Hospital, Brussels, Belgium, 9Endocrinology Department, L.-Hussel Hospital, Vienne, France, 10Endocrinology Department, Cochin University Hospital, Paris, France, 11Endocrinology Department, Lyon University Hospital, Bron-Lyon, France, 12Paediatric and Clinical Genetic Department, Correspondence Nancy University Hospital, Vandoeuvre les Nancy, France, 13Pediatric Endocrinology and Diabetology, should be -
University-Industry Partnerships and the Licensing of the Harvard Mouse
PATENTS Managing innovation: university-industry partnerships and the licensing of the Harvard mouse Sasha Blaug1,Colleen Chien1 & Michael J Shuster DuPont’s Oncomouse patent licensing program continues to cause a stir in academia and industry. ver the last several decades, technology restructuring in the 1980s resulting in optimized for mutual near- and long-term Oand technological innovation have reduced industry R&D spending and scarcer benefits to the parties? Recently this dialog gradually replaced manufacturing and agri- federal R&D funding. Increased technology has been focused on DuPont’s licensing of culture as the main drivers of the US econ- transfer has sparked a debate on univ- the transgenic ‘Harvard mouse,’ subse- omy. The unparalleled system of American ersities’ roles in the national economy: on quently trademarked as the Oncomouse6. research universities1 and their association the extent to which these relationships affect http://www.nature.com/naturebiotechnology with industry are important drivers of the the mission of universities to carry out The Oncomouse patents new economy. The relationship between and disseminate the results of basic DuPont’s patent licensing program for universities and industry is multifaceted, research, and on how universities can man- ‘Oncomouse technology’ has caused a stir in encompassing exchanges of knowledge, age their partnerships, collaborations and academia and industry for over a decade7. expertise, working culture and money. technology transfer without compromising These patents broadly claim transgenic Whereas the transfer of technology from their mission. nonhuman mammals expressing cancer- universities to industry has been going on In the basic research paradigm, inves- promoting oncogenes, a basic research tool for more than a century, ties between uni- tigators’ inquiries are directed toward dev- widely used in the fight against cancer. -
Waterkwaliteitsopgave 2016-2021 Uitwerking Voor De Waterlichamen
Waterkwaliteitsopgave 2016-2021 Uitwerking voor de waterlichamen Factsheets, september 2015 1 Inhoudsopgave Stroomgebieden Waterschap Rijn en IJssel ................................................................................................. 2 Stroomgebied Schipbeek ............................................................................................................................. 3 Buurserbeek ................................................................................................................................................. 4 Dortherbeek ................................................................................................................................................. 7 Dortherbeek-Oost......................................................................................................................................... 9 Elsbeek (Nieuwe waterleiding) ................................................................................................................... 12 Oude Schipbeek .......................................................................................................................................... 14 Schipbeek.................................................................................................................................................... 16 Zoddebeek .................................................................................................................................................. 19 Zuidelijk afwateringskanaal ....................................................................................................................... -
International Social Security Review
4.3 VOLUME | NUMBER 72 2 | APRIL– JUNE |2019 VOLUME 72 | NUMBER 2 www.issa.int APRIL–JUNE 2019 The International Social Security Association (ISSA) is the world’s leading international organization bringing together national social security administrations and agencies. The ISSA provides information, research, expert advice and platforms for members to build and promote dynamic social security systems and policy worldwide. International 2 | 2019 Social Security Review International Social Security Review Social International Second-pillar pensions in Central and Eastern Europe: Payment constraints and exit options Effective retirement age from employment and full-time employment, and the impact of the 2008 crisis How fair are unemployment benefits? The experience of East Asia Employer-oriented labour market policies in Sweden: Creating jobs and the division of labour in the public sector Social health protection in Cambodia: Challenges of policy design and implementation View this journal online at wileyonlinelibrary.com/journal/issr INTERNATIONAL SOCIAL SECURITY ASSOCIATION ASSOCIATION INTERNATIONALE DE LA SÉCURITÉ SOCIALE ASOCIACIÓN INTERNACIONAL DE LA SEGURIDAD SOCIAL INTERNATIONALE VEREINIGUNG FÜR SOZIALE SICHERHEIT Editorial Board First published in 1948, the International Social Security Review is the world’s major international quarterly pub- Chairperson Julien Damon, Sciences Po, Paris, Ecole nationale supérieure de sécurité sociale, France lication in the field of social security. Articles by leading academics and social security experts around the world Vice Chairperson Wouter van Ginneken, Independent Consultant, Geneva, Switzerland present international comparisons and in-depth discussions of topical questions as well as studies of social security Members Willem Adema, Organisation for Economic Co-operation and Development, Paris, France systems in different countries, and there are regular reviews of the latest publications in its field. -
UC Irvine UC Irvine Previously Published Works
UC Irvine UC Irvine Previously Published Works Title The C57BL/6J Mouse Strain Background Modifies the Effect of a Mutation in Bcl2l2 Permalink https://escholarship.org/uc/item/5152r99k Journal G3-Genes|Genomes|Genetics, 2(1) ISSN 2160-1836 Authors Navarro, S. J Trinh, T. Lucas, C. A et al. Publication Date 2012-01-06 DOI 10.1534/g3.111.000778 License https://creativecommons.org/licenses/by/4.0/ 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California INVESTIGATION The C57BL/6J Mouse Strain Background Modifies the Effect of a Mutation in Bcl2l2 Stefanie J. Navarro, Tuyen Trinh, Charlotte A. Lucas, Andrea J. Ross, Katrina G. Waymire, and Grant R. MacGregor1 Department of Developmental and Cell Biology, School of Biological Sciences, and Center for Molecular and Mitochondrial Medicine and Genetics, University of California Irvine, Irvine, California 92697-2300 ABSTRACT Bcl2l2 encodes BCL-W, an antiapoptotic member of the BCL-2 family of proteins. Intercross of KEYWORDS Bcl2l2 +/2 mice on a mixed C57BL/6J, 129S5 background produces Bcl2l2 2/2 animals with the expected –Nnt frequency. In contrast, intercross of Bcl2l2 +/2 mice on a congenic C57BL/6J background produces rela- mutation, genetic tively few live-born Bcl2l2 2/2 animals. Genetic modifiers alter the effect of a mutation. C57BL/6J mice modifier, BCL-W, (Mus musculus) have a mutant allele of nicotinamide nucleotide transhydrogenase (Nnt) that can act as apoptosis a modifier. Loss of NNT decreases the concentration of reduced nicotinamide adenine dinucleotide phos- phate within the mitochondrial matrix. Nicotinamide adenine dinucleotide phosphate is a cofactor for glutathione reductase, which regenerates reduced glutathione, an important antioxidant. -
Guide to Biotechnology 2008
guide to biotechnology 2008 research & development health bioethics innovate industrial & environmental food & agriculture biodefense Biotechnology Industry Organization 1201 Maryland Avenue, SW imagine Suite 900 Washington, DC 20024 intellectual property 202.962.9200 (phone) 202.488.6301 (fax) bio.org inform bio.org The Guide to Biotechnology is compiled by the Biotechnology Industry Organization (BIO) Editors Roxanna Guilford-Blake Debbie Strickland Contributors BIO Staff table of Contents Biotechnology: A Collection of Technologies 1 Regenerative Medicine ................................................. 36 What Is Biotechnology? .................................................. 1 Vaccines ....................................................................... 37 Cells and Biological Molecules ........................................ 1 Plant-Made Pharmaceuticals ........................................ 37 Therapeutic Development Overview .............................. 38 Biotechnology Industry Facts 2 Market Capitalization, 1994–2006 .................................. 3 Agricultural Production Applications 41 U.S. Biotech Industry Statistics: 1995–2006 ................... 3 Crop Biotechnology ...................................................... 41 U.S. Public Companies by Region, 2006 ........................ 4 Forest Biotechnology .................................................... 44 Total Financing, 1998–2007 (in billions of U.S. dollars) .... 4 Animal Biotechnology ................................................... 45 Biotech -
NNT Is a Key Regulator of Adrenal Redox Homeostasis and Steroidogenesis in Male Mice
236 1 Journal of E Meimaridou et al. NNT is key for adrenal redox 236:1 13–28 Endocrinology and steroid control RESEARCH NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice E Meimaridou1,*, M Goldsworthy2, V Chortis3,4, E Fragouli1, P A Foster3,4, W Arlt3,4, R Cox2 and L A Metherell1 1Centre for Endocrinology, William Harvey Research Institute, John Vane Science Centre, Queen Mary, University of London, London, UK 2MRC Harwell Institute, Genetics of Type 2 Diabetes, Mammalian Genetics Unit, Oxfordshire, UK 3Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK 4Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK *(E Meimaridou is now at School of Human Sciences, London Metropolitan University, London, UK) Correspondence should be addressed to E Meimaridou: [email protected] Abstract Nicotinamide nucleotide transhydrogenase, NNT, is a ubiquitous protein of the Key Words inner mitochondrial membrane with a key role in mitochondrial redox balance. NNT f RNA sequencing produces high concentrations of NADPH for detoxification of reactive oxygen species f nicotinamide nucleotide by glutathione and thioredoxin pathways. In humans, NNT dysfunction leads to an transhydrogenase adrenal-specific disorder, glucocorticoid deficiency. Certain substrains of C57BL/6 mice f redox homeostasis contain a spontaneously occurring inactivating Nnt mutation and display glucocorticoid f steroidogenesis Endocrinology deficiency along with glucose intolerance and reduced insulin secretion. To understand f ROS scavengers of the underlying mechanism(s) behind the glucocorticoid deficiency, we performed comprehensive RNA-seq on adrenals from wild-type (C57BL/6N), mutant (C57BL/6J) Journal and BAC transgenic mice overexpressing Nnt (C57BL/6JBAC). -
Systeembeschrijving Beheersgebied Oude Ijssel Juli 2016
Systeembeschrijving Beheersgebied Oude IJssel juli 2016 Systeembeschrijving beheersgebied Oude IJssel Inhoud Introductie in de systeembeschrijvingen ................................................................................................ 3 1 Samenvatting Beheersgebied Oude IJssel ....................................................................................... 4 2 Algemene informatie ....................................................................................................................... 9 2.1 Gebiedsbegrenzing en indeling ............................................................................................... 9 2.2 Bodem en ondergrond .......................................................................................................... 10 2.3 Historie .................................................................................................................................. 15 2.4 Landschap en landgebruik ..................................................................................................... 19 2.5 Natuur.................................................................................................................................... 21 3 Watersysteem ............................................................................................................................... 24 3.1 Algemeen: Beheersgebied Oude IJssel .................................................................................. 24 3.2 Oude IJssel en Aastrang ........................................................................................................