Following Abstracts Were Not Provided I Onda Ih

Total Page:16

File Type:pdf, Size:1020Kb

Following Abstracts Were Not Provided I Onda Ih Impressum PUBLISHER: ISABS – International Society for Applied Biological Sciences CIRCULATION: 500 copies Zagreb, June 2011 Copyright 2011 Video and/or audio-taping of any session is not permitted without prior approval from the speakers and from the scientific committee of the 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 1 June 20-24, 2011, Bol, Island of Braþ, Croatia Conference floor layout Braè Executive bar Press center WC Hvar Šolta Korèula WC Entrance Bar Ela Vis Souvenir shop Reception Restaurant Wellness Bowling Tavern “Vallum” Night club 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 2 June 20-24, 2011, Bol, Island of Braþ, Croatia Table of Contents Table of Contents Welcome note …………………………………………………. 4 Conference Organizer ……………………………………….. 5 ISABS Committees …………………………………………… 7 The Young Investigator Awards…….. ……………………... 10 Scientific Program Information …………………………….. 11 General Information ………………………………………….. 13 Speakers ……………………………………………………….. 15 Scientific Program ……………………………………………. 20 Abstracts – Oral Presentations ……………………………. 30 Invited Lectures ………………………………………………… 31 Technial Workshop………………………………………………87 Selected Lectures ……………………………………………… 91 YIA ……………………………………………………………….. 96 Abstracts – Poster Presentations …………………………. 101 Forensic Genetics ……………………………………………… 102 Anthropologic Genetics .……………………………………….. 142 Medical Genetics ……………….………………………………. 167 About Invited Speakers . …………………………………….. 219 HDHG Scientific Program …………………………………… 236 Abstracts – Oral Presentations…...………………………… 242 Abstracts – Poster Presentations…...…...………………… 280 Sponsor’s Information ……………………………………….. 305 Author index …………………………………………………… 318 Keyword index ………………………………………………… 328 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 3 June 20-24, 2011, Bol, Island of Braþ, Croatia Welcome note Welcome note Dear Colleagues, Welcome to the 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine. The conference is next in the series of biennial events organized by the International Society for Applied Biological Sciences, a society dedicated to the promotion of applied molecular biology (www.isabs.hr). Since the initiation of the series in 1997, we have strived both to focus and broaden the scope of the conferences. The focus has been on the application of cutting- edge analytical methodology in forensic science. However, since 2007 we have broadened the area of interest by the introduction of molecular anthropology that, in large part, shares the methodology with forensic genetics. In 2009, we introduced selected topics from individualized medicine, another applied discipline based on the advances in mapping of the human genome. In 2011 we decided to include the newest and most interesting topics related to the molecular medicine. As before, the conference is structured to allow close interaction of the international faculty and attendees. Together with formal presentations, there will be meet-the- professor sessions, a day trip and other social occasions that are meant to enhance opportunities for scientific intercourse, but also to introduce the participants to the town of Bol, one of the best known tourist destinations in Croatia due to its unspoiled nature, beautiful beaches, cultural and historical attractions and well developed tourist and sport offers. Enjoy! Moses Schanfield Dragan Primorac Stanimir Vuk-Pavloviü Program/Conference Directors 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 4 June 20-24, 2011, Bol, Island of Braþ, Croatia Conference Organizer CONFERENCE ORGANIZER Organizer: International Society for Applied Biological Sciences e-mail: [email protected] http://www.isabs.hr Conference is organized under the auspices of the Croatian Academy of Science and Arts Program/Conference Directors: Moses Schanfield, George Washington University, Washington, DC, USA Dragan Primorac, University of Split and University of Osijek, Croatia; The Pennsylvania State University and University of New Haven, USA Stanimir Vuk-Pavloviü, Mayo Clinic College of Medicine, Rochester, MN, USA Program Committee: Gordan Lauc (Genos, Ltd, DNA Laboratory, Zagreb, Croatia) Damir Marjanoviü (Institute for Genetic Engineering and Biotechnology (INGEB), Sarajevo, Bosnia and Herzegovina and Genos and Forensic DNA Laboratory, Zagreb, Croatia) Pavao Rudan (University of Zagreb, Zagreb, Croatia) Stanimir Vuk-Pavloviü (Mayo Clinic College of Medicine, Rochester, MN, USA) Scientific Committee: Forensic Genetics: Antonio Alonso (National Institute of Toxicology and Forensic Sciences, Madrid, Spain) Zoran Budimlija (Office of Chief Medical Examiner, New York, NY, USA) Cecelia Crouse (Palm Beach Sheriff's Office, West Palm Beach, FL, USA) Jürgen Henke (Institut für Blutgruppenforschung, Köln, Germany) Mitchell Holland (The Pennsylvania State University, USA) Henry Lee (University of New Haven, West Haven and Connecticut Forensic Science Laboratory, Meriden, CT, USA) José Antonio Lorente (Pfizer - University of Granada & Andalusian Government Centre for Genomics & Oncology, Granada, Spain) Marilyn Menotti-Raymond (National Cancer Institute, Frederick, MD, USA) Antti Sajantila (Department of Forensic Medicine, University of Helsinki, Helsinki, Finland) Molecular and Cellular Medicine: Henry Erlich (Roche Molecular Systems, Inc., Alameda, CA, USA) 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 5 June 20-24, 2011, Bol, Island of Braþ, Croatia Conference Organizer Francis Glorieux (Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, QC, Canada) Robert Huber - Nobel Laureate 1988 (Max Planck Institute for Biochemistry, Martinsried, Germany) Doron Lancet (Weizmann Institute of Science, Rehovot, Israel) Gordan Lauc (Faculty of Pharmacy and Biochemistry, University of Zagreb, Croatia) Pier Franco Pignatti (Institute of Biology and Genetics and Faculty of Medicine and Surgery, University of Verona, Italy) Richard J. Roberts - Nobel Prize 1993 (New England Biolabs, Ipswich, MA, USA) Igor Rudan (University of Edinburgh Medical School, Scotland, UK) David I. Smith (Mayo Clinic College of Medicine, Rochester, MN, USA) Molecular Anthropology: Pavao Rudan (Institute for Anthropological Research, Zagreb, Croatia) Peter Underhill (Stanford University Medical Center, Stanford, CA, USA) Local Organizing Committee: Šimun Anÿelinoviü Damir Marjanoviü Ivana Erceg Ivkošiü, Chair Petar Projiü Ante Ivkošiü Duje Rako - webmaster Dalibor Marijanoviü Ivana Šamija Projiü Inga Marijanoviü Vedrana Škaro Assistance to the Local Organizing Committee: Šime Brkiü Ivan Mateljak Katarina Caput Mihaliü Igor Matiü Mateja Hajdinjak Marija Mazor Martina Kralj Zrinka Romiü Ivana Kutle Jerko Štambuk Josip Maduniü Ante Vuliü Mija Marinkoviü Official service agency of the conference: VenEvent Gunduliüeva 3, 10000 Zagreb, Croatia www.venevent.com tel ++385 (1) 55 083 04 fax ++385 (1)48 200 49 [email protected] www.venevent.com ID Code: HR-A-01-080443208 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine 6 June 20-24, 2011, Bol, Island of Braþ, Croatia ISABS Committees ISABS Committees ISABS registration number: 21003655 Date of registration: August 27, 2004 President: Ivana Erceg-Ivkošiü (Clinical Hospital "Sveti Duh", Zagreb, Croatia) Vice President: Inga Marijanoviü (University of Zagreb, Faculty of Science, Zagreb, Croatia) General Secretary: Vedrana Škaro (Genos, Forensic DNA Laboratory, Zagreb, Croatia) ISABS Conferences Founding Members: Dragan Primorac (University of Split and University of Osijek, Croatia; The Pennsylvania State University and University of New Haven, USA) Moses Schanfield (George Washington University, Washington, DC, USA) Stanimir Vuk-Pavloviü (Mayo Clinic College of Medicine, Rochester, MN, USA) Scientific Committee: Forensic Genetics: Antonio Alonso (National Institute of Toxicology and Forensic Sciences, Madrid, Spain) Chris Asplen (Gordon Thomas Honeywell Governmental Affairs, Washington, DC and DNA 4 Africa, Chalfont, Pennsylvania, USA) Zoran Budimlija (Office of Chief Medical Examiner, New York, NY, USA) Cecelia Crouse (Palm Beach Sheriff's Office, West Palm Beach, FL, USA) Jürgen Henke (Institut für Blutgruppenforschung, Köln, Germany) Mitchell Holland (The Pennsylvania State University, USA) Henry Lee (University of New Haven, West Haven and Connecticut Forensic Science Laboratory, Meriden, CT, USA) José Antonio Lorente (Pfizer - University of Granada & Andalusian Government Centre for Genomics & Oncology, Granada, Spain) Marilyn Menotti-Raymond (National Cancer Institute, Frederick, MD, USA) Antti Sajantila (Department of Forensic Medicine, University of Helsinki, Helsinki, Finland) Molecular and Cellular Medicine: Henry Erlich (Roche Molecular Systems, Inc., Alameda, CA, USA) Francis Glorieux (Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, QC, Canada) Robert Huber - Nobel Laureate 1988 (Max Planck Institute for Biochemistry, Martinsried, Germany) Doron Lancet (Weizmann Institute of Science, Rehovot,
Recommended publications
  • A Critical Race Analysis of the Impact of Familial DNA Searching on Canada's Aboriginal Peoples
    E-racing the Genetic Family Tree: A Critical Race Analysis of the Impact of Familial DNA Searching on Canada's Aboriginal Peoples Amy Conroy A Thesis Submitted in Partial Fulfillment of the Requirements for the Degree of the Ph.D. in Law Faculty of Law University of Ottawa © Amy Conroy, Ottawa, Canada, 2016 TABLE OF CONTENTS ABSTRACT ................................................................................................................................... v ACKNOWLEDGMENTS ........................................................................................................... vi CHAPTER ONE: Introduction ............................................................................................... 1 1.1 Introduction to the Research ................................................................................................. 1 1.2 Methodology ................................................................................................................................ 7 1.3 Canada’s NDDB ......................................................................................................................... 18 1.4 Aboriginal Overrepresentation on Canada’s NDDB ..................................................... 27 1.5 Literature Review .................................................................................................................... 37 (i) The Uniqueness of DNA ....................................................................................................................... 40 (ii) Societal Acceptance
    [Show full text]
  • Structure, Function and Five Basic Needs of the Global Health Research System
    Edinburgh Research Explorer Structure, function and five basic needs of the global health research system Citation for published version: Rudan, I & Sridhar, D 2016, 'Structure, function and five basic needs of the global health research system', Journal of Global Health, vol. 6, no. 1, pp. 010505. https://doi.org/10.7189/jogh.06.010505 Digital Object Identifier (DOI): 10.7189/jogh.06.010505 Link: Link to publication record in Edinburgh Research Explorer Document Version: Publisher's PDF, also known as Version of record Published In: Journal of Global Health Publisher Rights Statement: Copyright © 2016 by the Journal of Global Health. All rights reserved. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the legal requirements associated with these rights. Take down policy The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer content complies with UK legislation. If you believe that the public display of this file breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download
    [Show full text]
  • International Society for Applied Biological Sciences
    International Society for Applied Biological Sciences th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine Hotel Dubrovnik Palace / Dubrovnik, June 19-24, 2017 www.isabs.hr th Dear Colleague, Please join us at the Tenth International Society for Applied Biological Sciences (ISABS) Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine, Dubrovnik, Croatia, June 19-24, 2017. This jubilee event commemorates the twentieth anniversary of our conference series. The idea for the conference was conceived out of necessity to bring to Croatia and broader region insights into the rapidly developing genetic techniques to forensic and clinical applications. The impact of the conferences and the resulting professional ties on applied genetics in the region has been substantive. It affected numerous research and educational efforts being crowned in 2009 with the opening of the Center for Forensic Sciences at the University of Split, currently the only institution that offers the specialized graduate program in the region. In addition, ISABS, our parent society, and the American Academy of Forensic Sciences agreed recently to forge scientific and academic ties to provide even more opportunities and access for the budding scientists. As genetic technology in forensics overlaps with genetic anthropology, for the past decade we have included anthropologic sessions into the program. At the same time, Mayo Clinic joined the effort. It provided the critical link into the cutting-edge clinical applications of genetics. The overall effort culminated in the incorporation of individualized medicine as the third cornerstone, together with forensic and anthropologic genetics, of our programs.
    [Show full text]
  • Lessons Learned from 9/11: DNA Identification in Mass Fatality Incidents
    SEPTEMBER 2006 Lessons Learned From 9/11: DNA Identification in Mass Fatality Incidents PRESIDENT’S DNA I N I T IA T I VE www.DNA.gov U.S. Department of Justice Office of Justice Programs 810 Seventh Street N.W. Washington, DC 20531 Alberto R. Gonzales Attorney General Regina B. Schofield Assistant Attorney General Glenn R. Schmitt Acting Director, National Institute of Justice Office of Justice Programs Partnerships for Safer Communities www.ojp.usdoj.gov Lessons Learned From 9/11: DNA Identification in Mass Fatality Incidents SEPTEMBER 2006 National Institute of Justice This document is not intended to create, and may not be relied upon to create, any rights, substantive or procedural, enforceable at law by any party in any matter civil or criminal. The opinions, factual and other findings, conclusions, or recommendations in this publication represent the points of view of a majority of the KADAP members and do not necessarily reflect the official position or policies of the U.S. Department of Justice. NCJ 214781 Preface n September 11, 2001, 2,792 people This report discusses the incorporation of DNA were killed in terrorist attacks on the identification into a mass fatality disaster plan, O World Trade Center (WTC) in New York including how to: City. The number of victims, the condition of their ■ Establish laboratory policies and procedures, remains, and the duration of the recovery effort including the creation of sample collection made the identification of the victims the most documents. difficult ever undertaken by the forensic commu­ nity in this country. ■ Assess the magnitude of an identification effort, and identify and acquire resources to In response to this need, the National Institute of respond.
    [Show full text]
  • Appendix A. Natioan Commission on Forensic Science Commissioners
    Reflecting Back—Looking Toward the Future: Appendix A Appendix A. National Commission on Forensic Science Commissioners and Biographies Co-Chairs: Arturo Casadevall, Ph.D. Marc LeBeau, Ph.D. Acting Deputy Attorney General Gregory Champagne Julia Leighton Dana J. Boente Cecelia Crouse, Ph.D. Hon. Bridget Mary McCormack Acting NIST Director and Under Gregory Czarnopys Peter Neufeld Secretary of Commerce for Standards & Technology Kent Deirdre Daly Phil Pulaski Rochford, Ph.D. M. Bonner Denton, Ph.D. Matthew Redle Vice-Chairs: Jules Epstein Sunita Sah, Ph.D. Nelson Santos John Fudenberg Michael “Jeff” Salyards, Ph.D. John Butler, Ph.D. S. James Gates, Jr., Ph.D. Ex-Officio Members: Commission Staff: Dean Gialamas Rebecca Ferrell, Ph.D. Jonathan McGrath, Ph.D. (DFO) Paul Giannelli David Honey, Ph.D. Danielle Weiss Randy Hanzlick, M.D. Marilyn Huestis, Ph.D. Lindsay DePalma Hon. Barbara Hervey Gerald LaPorte Susan Howley Commission Members: Patricia Manzolillo Ted Hunt Thomas Albright, Ph.D. Hon. Jed Rakoff Linda Jackson Suzanne Bell, Ph.D. Frances Schrotter Hon. Pam King Frederick Bieber, Ph.D. Kathryn Turman Troy Lawrence Former Chairs: Former Commission Members: James M. Cole Thomas Cech, Ph.D. Patrick Gallagher, Ph.D. William Crane Willie E. May, Ph.D. Vincent DiMaio, M.D. Sally Q. Yates Troy Duster, Ph.D. Andrea Ferreira-Gonzalez, Ph.D. Former Commission Staff: Andrew J. Bruck Stephen Fienberg, Ph.D. Robin Jones John Kacavas Brette Steele Ryant Washington Victor Weedn, M.D. Former Ex-Officio Members: Mark Weiss, Ph.D. 1 Reflecting Back—Looking Toward the Future: Appendix A NCFS Co-Chairs Dana J.
    [Show full text]
  • Genetic Comparison of a Croatian Isolate and CEPH European Founders
    Edinburgh Research Explorer Genetic comparison of a Croatian isolate and CEPH European founders Citation for published version: Navarro, P, Vitart, V, Hayward, C, Tenesa, A, Zgaga, L, Juricic, D, Polasek, O, Hastie, ND, Rudan, I, Campbell, H, Wright, AF, Haley, CS & Knott, SA 2010, 'Genetic comparison of a Croatian isolate and CEPH European founders', Genetic Epidemiology, vol. 34, no. 2, pp. 140-5. https://doi.org/10.1002/gepi.20443 Digital Object Identifier (DOI): 10.1002/gepi.20443 Link: Link to publication record in Edinburgh Research Explorer Document Version: Publisher's PDF, also known as Version of record Published In: Genetic Epidemiology General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the legal requirements associated with these rights. Take down policy The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer content complies with UK legislation. If you believe that the public display of this file breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download date: 29. Sep. 2021 Genetic Epidemiology 34 : 140–145 (2010) Genetic Comparison of a Croatian Isolate and CEPH European Founders Pau Navarro,1Ã Ve´ronique Vitart,1 Caroline Hayward,1 Albert Tenesa,2 Lina Zgaga,3 Danica Juricic,4 Ozren Polasek,3,5 Nicholas D. Hastie,1 Igor Rudan,5,6 Harry Campbell,5 Alan F.
    [Show full text]
  • Forensic Science Research and Evaluation Workshop: a Discussion on the Fundamentals of Research Design and an Evaluation of Available Literature
    U.S. Department of Justice Offi ce of Justice Programs National Institute of Justice National Institute of Justice Forensic Science Research and Evaluation Workshop: A Discussion on the Fundamentals of Research Design and an Evaluation of Available Literature May 26–27, 2015 Washington, D.C. NCJ 250088 U.S. Department of Justice Office of Justice Programs 810 Seventh St. N.W. Washington, DC 20531 Loretta E. Lynch Attorney General Karol V. Mason Assistant Attorney General Nancy Rodriguez, Ph.D. Director, National Institute of Justice This and other publications and products of the National Institute of Justice can be found at: National Institute of Justice Strengthen Science • Advance Justice http://www.nij.gov Office of Justice Programs Innovation • Partnerships • Safer Neighborhoods http://www.ojp.usdoj.gov The National Institute of Justice is the research, development and evaluation agency of the U.S. Department of Justice. NIJ’s mission is to advance scientific research, development and evaluation to enhance the administration of justice and public safety. The National Institute of Justice is a component of the Office of Justice Programs, which also includes the Bureau of Justice Assistance; the Bureau of Justice Statistics; the Office for Victims of Crime; the Office of Juvenile Justice and Delinquency Prevention; and the Office of Sex Offender Sentencing, Monitoring, Apprehending, Registering, and Tracking. Forensic Science Research and Evaluation Workshop A Discussion on the Fundamentals of Research Design and an Evaluation of Available
    [Show full text]
  • DNA and Its Privacy
    DNA and Its Privacy The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Coodly, Lavanya R. 2019. DNA and Its Privacy. Master's thesis, Harvard Extension School. Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:42006723 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA DNA and Its Privacy Lavanya Coodly A Thesis in the Field of Legal Studies for the Degree of Master of Liberal Arts in Extension Studies Harvard University November 2019 Copyright 2019 Lavanya Coodly Abstract [W]e can’t go anywhere without leaving a bread-crumb trail of identifying DNA matter. If we have no legitimate expectation of privacy in such bodily material, what possible impediment can there be to having the government collect what we leave behind, extract its DNA signature and enhance CODIS to include everyone? —Judge Alex Kozinski, dissenting in United States v. Kincade When you’ve licked a stamp on your tax return you’ve sent the government a DNA sample. —Victor Weedn, Head of Armed Forces DNA Identification Laboratory When we visit a doctor’s office and leave samples of blood or urine, sip a drink out of a glass in a restaurant, comb our hair, or visit a salon or a spa, it turns out that we are inadvertently leaving behind traces of our DNA.
    [Show full text]
  • Demonstrating Reduced Environmental and Genetic Diversity in Human Isolates by Analysis of Blood Lipid Levels
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE Brief Report Demonstrating Reduced Environmental and Genetic Diversity in Human Isolates by Analysis of Blood Lipid Levels Ozren Polašek1,2, Ivana Kolčić1, Ankica Smoljanović3, Dražen Stojanović4, Matijana Grgić5, Barbara Ebling6, Maja Klarić6, Josip Milas6, Dinko Puntarić6 1Department of Medical Statistics, Aim To test the hypothesis that phenotypic diversity in isolated hu- Epidemiology, and Medical Informatics, man populations is decreased in comparison with general outbred Andrija Štampar School of Public Health, population because of reduced genetic and environmental diversity. Zagreb University School of Medicine, Zagreb, Croatia; To demonstrate this in populations for which reduced genetic and 2Department of Public Health Sciences, environmental diversity had already been established, by studying the University of Edinburgh, Edinburgh, UK amount of variation in plasma lipid levels. 3 Institute of Public Health, Split, Croatia Methods Fasting plasma lipid levels (cholesterol, triglycerides, low 4Department of Epidemiology, Rijeka density lipoprotein [LDL], and high density lipoprotein [HDL]) were University School of Medicine, measured in randomly selected 300 inhabitants from 2 isolated hu- Rijeka, Croatia man populations, the island of Rab and the neighboring islands of Vis 5Institute of Public Health, and Lastovo, Croatia. The populations were chosen based on previous Zagreb, Croatia analyses of genetic diversity and lifestyle patterns, which were shown 6Department of Epidemiology, Osijek University School of Medicine, to be both less diverse and more uniform than the general Croatian Osijek, Croatia population. We studied whether the 25’-75’ and 5′-95’ interpercentile ranges in observed values were consistently smaller in 2 samples of 300 examinees from isolated populations in comparison with nearly 6000 examinees from an earlier study who were demographically targeted to > Correspondence to: represent the larger Croatian population.
    [Show full text]
  • TEXAS FORENSIC SCIENCE COMMISSION Justice Through Science
    TEXAS FORENSIC SCIENCE COMMISSION Justice Through Science FINAL AUDIT REPORT FOR AUSTIN POLICE DEPARTMENT FORENSIC SERVICES DIVISION DNA SECTION JULY 8, 2016 TABLE OF CONTENTS SUMMARY OF APPLICABLE STATUTORY AUTHORITY…………………………………1 Legislative Background and Jurisdiction………………………………………………….1 Investigative Jurisdiction.........................................................................................1 Accreditation Jurisdiction………………………………………………………....2 Important Limitations on the Commission’s Authority…………………………...2 BACKGROUND………………………………………………………………………………….3 DNA Mixture Interpretation Basics………………………………………………………3 The Technical Issue in a Nutshell………………………………………………………...7 Commission Statewide Review: Training, Protocol and Case Sample Reviews…......…10 ISSUES SPECIFIC TO THE APD DNA LAB………………………………………………….12 Observations Related to DNA Mixture Interpretation…………………………………...12 Establishment & Continuation of Quantification-Based Stochastic Threshold….12 Validation Studies Lacked Data to Support Quant-Based Threshold……………14 CPI Decisions Driven by the Known Profile (Suspect or Victim)………………15 Unclear Use of Protocol Deviation………………………………………………16 Significance of Observations Related to DNA Mixture Interpretation………….17 Contamination Events……………………………………………………………………18 Use of AP Reagent Outside Manufacturer’s Instructions………………………………..22 Leadership and Training Issues………………………………………………………….23 RELIANCE ON ACCREDITATION AND SWGDAM………………………………………..26 RECOMMENDATIONS………………………………………………………………………..29 RECOGNITION………………………………………………………………………………...32
    [Show full text]
  • Article Reference
    Article Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels TIN, Adrienne, et al. Abstract Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between [...] Reference TIN, Adrienne, et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nature Genetics, 2019, vol. 51, no. 10, p. 1459-1474 DOI : 10.1038/s41588-019-0504-x PMID : 31578528 Available at: http://archive-ouverte.unige.ch/unige:147158 Disclaimer: layout of this document may differ from the published version. 1 / 1 HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Nat Genet Manuscript Author . Author manuscript; Manuscript Author available in PMC 2020 April 02. Published in final edited form as: Nat Genet.
    [Show full text]
  • Where and Why Are 10 Million Children Dying Every Year?
    CHILD SURVIVAL I Child survival I Where and why are 10 million children dying every year? Robert E Black, Saul S Morris, Jennifer Bryce More than 10 million children die each year, most from preventable causes and almost all in poor countries. Six countries account for 50% of worldwide deaths in children younger than 5 years, and 42 countries for 90%. The causes of death differ substantially from one country to another, highlighting the need to expand understanding of child health epidemiology at a country level rather than in geopolitical regions. Other key issues include the importance of undernutrition as an underlying cause of child deaths associated with infectious diseases, the effects of multiple concurrent illnesses, and recognition that pneumonia and diarrhoea remain the diseases that are most often associated with child deaths. A better understanding of child health epidemiology could contribute to more effective approaches to saving children’s lives. Substantial reductions in child mortality occurred in low- commensurate with needs. The mortality reduction target income and middle-income countries in the late 20th was reached for only five of 55 countries with an under-5- century, but more than 10 million children younger than year mortality rate of 100 or more in 1990.4 5 years still die every year.1,2 In this article, the first in a In 2002, as part of the millennium development goals series of five, we consider reasons for these deaths and for health, nations pledged to ensure a two-thirds provide recommendations for how they can be prevented. reduction in child mortality by 2015, from the base year Rates of decline in worldwide child mortality peaked in 1990.5 In addition to setting such a goal, the global public about 1980.1 In 1990–2001, the number of child deaths health community must critically assess how it can be fell by 1·1% every year, compared with 2·5% per year accomplished.
    [Show full text]