Molecular and Medical Genetics
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AMP Molecular Genetic Pathology Recommended Review Books
ASSOCIATION FOR MOLECULAR PATHOLOGY Education. Innovation & Improved Patient Care. Advocacy. 6120 Executive Blvd. Suite 700, Rockville, MD 20852 Tel: 301-634-7939 | Fax: 301-634-7995 | [email protected] | www.amp.org AMP Molecular Genetic Pathology : RECOMMENDED REVIEW BOOKS Updated: March, 2021 The following books are suggested for those preparing for the Molecular Genetic Pathology board exam administered by the American Board of Medical Genetics and the American Board of Pathology. This list represents the recommendations of the MGP Review Course faculty and the AMP Training and Education Committee; endorsement by the ABMG or the ABP is not implied. GENERAL MOLECULAR PATHOLOGY Thompson & Thompson Genetics in Medicine, 8th edition Nussbaum RL et al., eds. Elsevier, 2015 Molecular Pathology: The Molecular Basis of Human Diseases 2nd edition Coleman WB and Tsongalis GJ, eds. Elsevier, 2018 Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing Coleman WB and Tsongalis GJ, eds. Elsevier, 2016 Molecular Basis of Human Cancer, 2nd edition Coleman WB and Tsongalis GJ, eds. Elsevier, 2017 Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications 3rd edition Buckingham L. ASCP, 2021 Genomic Medicine: A Practical Guide Tafe LJ and Arcila ME, eds. Springer, 2020 CYTOGENETICS Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling, 5th edition McKinlay Gardner RJ, Amor DJ. Oxford University Press, 2018 The Principles of Clinical Cytogenetics, 3rd edition Gersen SL and Keagle MB, eds. Human Press, 2013 Human Chromosomes, 4th edition Miller OJ and Therman E, eds. Springer Press, 2000 Vance GH, Khan WA. Utility of Fluorescence In Situ Hybridization in Clinical and Research Applications. Advances in Molecular Pathology 2020; 3:65-75. -
The Rights of Children in Biomedicine: Challenges Posed by Scientific Advances and Uncertainties
The Rights of Children in Biomedicine: Challenges posed by scientific advances and uncertainties Kavot Zillén, Jameson Garland, & Santa Slokenberga Table of Contents About the Authors ...................................................................................................................... v Executive summary .................................................................................................................... 1 Resumé ....................................................................................................................................... 2 1. Introduction ............................................................................................................................ 4 1.1 The aims of the report ...................................................................................................... 4 1.2 Scientific challenges in biomedicine, pediatric care, and law .......................................... 5 1.2.1 Identifying the vulnerabilities and diversity of children as a class ........................... 5 1.2.2 Conceptualizing risk in relation to scientific advances, uncertainties, and rights ..... 6 1.2.3 Locating uncertainty and risk in biomedicine ........................................................... 7 1.3 The parameters and methodology of the report ............................................................... 8 1.4 The structure and disposition of the report ..................................................................... 10 2. Child development and its relation -
Leave Policy for Residents and Fellows.Pdf
Leave Policy for Residents and Fellows The following policy outlines indications and training modifications to accommodate leave during accredited training for certification in all of the ABMGG specialties. Candidates for certification are required to successfully complete training in one of the following programs: ACGME-accredited Programs: 24 months (2 years) • Medical Genetics and Genomics Residency • Clinical Biochemical Genetics Postdoctoral Fellowship • Laboratory Genetics and Genomics Postdoctoral Fellowship Approved Combined Residency Programs: 48 months (4 years) • Medical Genetics and Genomics/Internal Medicine • Medical Genetics and Genomics/Pediatrics • Medical Genetics and Genomics/Maternal Fetal Medicine • Medical Genetics and Genomics/Reproductive Endocrinology and Infertility Subspecialty Fellowship Programs: 12 months (1 year) • Medical Biochemical Genetics • Molecular Genetic Pathology (cosponsored with American Board of Pathology) General Leave Policy: All candidates are allotted 4 weeks leave per year, which may be accrued or averaged through the duration of training for any indication. All candidates must take at least one week off per year as designated vacation time. Leave time cannot be forfeited to shorten training duration. Parental, Caregiver, and Medical Leave Policy: This policy refers to leave for the following indications: parental leave (the birth and care of a newborn including adopted and foster children for either partner), caregiver leave (care for an immediate (first degree) family member or partner with a serious health condition), or medical leave for significant personal medical needs. For Parental, Caregiver, and Medical leave, the ABMGG will allow up to 6 weeks leave during an academic year to occur once during the training program. For trainees who take indicated leave, they must still take at least one additional week for vacation during the same training year. -
Department of Molecular Biology and Immunology
Genetics Student Handbook 2020-2021 The information provided in this document serves to supplement the requirements of the Graduate School of Biomedical Sciences detailed in the UNTHSC Catalog with requirements specific to the Genetics discipline. Genetics Discipline (8/6/20) 1 Table of Contents Page Description of the Genetics Discipline ............................................ 3 Graduate Faculty and Their Research ............................................. 5 Requirements ................................................................................... 9 Required Courses ....................................................................... 9 Journal Club and Seminar Courses ............................................ 9 Elective Courses ......................................................................... 9 Sample Degree Plans ..................................................................... 11 Advancement to Candidacy ........................................................... 14 Genetics Discipline (8/6/20) 2 1. Description of the Genetics Discipline John V. Planz, Ph.D., Graduate Advisor Center for BioHealth, Rm 360 Phone: 817-735-2397 E-mail: [email protected] Program website: www.unthsc.edu/graduate-school-of-biomedical-sciences/genetics/ Graduate Faculty: Allen; Barber; Budowle; Cihlar; Coble; Ge; Phillips; Planz; Woerner Genetics is a broad interdisciplinary field that unites biochemistry, microbial and cellular biology, molecular processes, biotechnology, computational biology, biogeography and human disease -
Importance of Medical Genetics Research in Medicine
cs an eti d D n N e A G f R Journal of Genetics and DNA o e l s a e a n Sboui S, Tabbabi A, J Genet DNA Res 2018, 2:1 r r c u h o J Research Short Communication Open Access Importance of Medical Genetics Research in Medicine Sajida Sboui1 and Ahmed Tabbabi2* 1Faculty of Medicine of Monastir, Monastir University, Monastir, Tunisia 2Department of Hygiene and Environmental Protection, Ministry of Public Health, Tunis, Tunisia *Corresponding author: Ahmed Tabbabi, Department of Hygiene and Environmental Protection, Ministry of Public Health, Tunis, Tunisia, Tel: +216 71 577 115; +216 71 577 302; E-mail: [email protected] Received date: February 09, 2018, Accepted date: February 20, 2018, Published date: February 27, 2018 Copyright: © 2018 Sboui S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Keywords: Chromosome; Genes; Cleft lip; Transforming growth In medical genetics, the work diagnosis includes molecular analyzes factors (DNA, proteins and chromosomes) and clinical manisfestations of conditions, including malformations birth. If monogenic diseases are Short Communication rare, those caused by the gene/environment interaction are common and include many diseases. Prevention in medical genetics involves for About millions of families are affected by hereditary diseases around common pathologies the identification of subjects with high risk, with the world. Statistics analysis showed that about 5% of all pregnancies the intention of preventing the disease (e.g. -
Health Science: Biomedicine Public Service Endorsement
INNOVATE • COLLABORATE • EDUCATE • INNOVATE • COLLABORATE • EDUCATE Health Science: Biomedicine Public Service Endorsement Career Pathways • Biochemist • Biomedical Engineer • Biophysicist • Physician, Surgeon Certifications / Certificate Options • CPR • OSHA Program Highlights Biomedical engineering represents new areas of medical research and • Pathogen Analysis product development; biomedical engineers’ work helps pave the way • Human Anatomy & Physiology for new ways to help treat injuries and diseases. As medicine is a field • DNA / Genomics with vast numbers of specific disciplines, there are many different sub- • Laboratory Procedures fields in which biomedical engineers work. Some work to improve and • Dissection develop new machinery, such as robotic surgery equipment; others • Grow and Culture Bacteria endeavor to create better, more reliable replacement limbs (or parts • Real World Research which help existing limbs function better, such as joint replacements). • Learn to Treat Patients New and more comfortable patient beds, monitoring equipment, and electronics are also products that often begin as concepts from the CTSO(s) biomedical engineer’s or involve some level of input from them. • HOSA - Future Health Professionals KISD Biomedical Program: Program Fees / Requirements Biomedicine classes in KISD aim to prepare students to enter the • HOSA membership (Optional) health care field by giving them a foundation in real world problems, medical treatments, and a better understanding of the human body. Program Location Students will investigate causes and treatments of diseases that R Course(s) available at CHS affect the entire world as well as ones found in our own community. R Course(s) available at FRHS Students learn advanced techniques used in hospitals and research R Course(s) available at KHS labs and will become familiar with protocols used by doctors and R Course(s) available at TCHS researchers today. -
An Updated Primer
The new england journal of medicine review article Genomic Medicine W. Gregory Feero, M.D., Ph.D., and Alan E. Guttmacher, M.D., Editors Genomic Medicine — An Updated Primer W. Gregory Feero, M.D., Ph.D., Alan E. Guttmacher, M.D., and Francis S. Collins, M.D., Ph.D. Cathy, a 40-year-old mother of three, arrives in your office for her annual physical. From the National Human Genome Re- She has purchased a commercial genomewide scan (see the Glossary), which she be- search Institute (W.G.F.), the Eunice Ken- nedy Shriver National Institute of Child lieves measures the clinically meaningful risk that common diseases will develop, H e al t h an d Human D e ve l o p m e n t ( A . E .G .), and has completed her family history online using My Family Health Portrait (www and the Office of the Director (F.S.C.), .familyhistory.hhs.gov), a tool developed for this purpose by the U.S. Surgeon Gen- National Institutes of Health, Bethesda, MD; and the Maine Dartmouth Family eral. Her genomewide scan suggests a slightly elevated risk of breast cancer, but Medicine Residency Program, Augusta, you correctly recognize that this information is of unproven value in routine clinical ME (W.G.F.). Address reprint requests to care. On importing Cathy’s family-history file, your office’s electronic health record Dr. Feero at the National Human Ge- nome Research Institute, National Insti- system alerts you to the fact that Cathy is of Ashkenazi Jewish heritage and has sev- tutes of Health, Bldg. -
Genetic Testing for BRCA Mutations: a POLICY PAPER
Genetic testing for BRCA mutations: A POLICY PAPER 2019 This report was initiated and funded by Pfizer. Pfizer has provided funding to The Health Policy Partnership (HPP) for research, drafting and coordination. The report was written by Kirsten Budig, Jody Tate and Suzanne Wait from HPP under the guidance of a group of expert contributors. The experts contributed through telephone interviews and written comments, and were not financially compensated for their time. The following expert contributors were consulted and provided feedback during the development of this European-level report and the country profiles, for which we are hugely grateful. European-level report • Karen Benn, Deputy CEO/ Head of Public Affairs, Europa Donna • Antonella Cardone, Director, European Cancer Patient Coalition • Lydia Makaroff, former Director, European Cancer Patient Coalition; current Chief Executive Officer, Fight Bladder Cancer • Elżbieta Senkus-Konefka, Associate Professor at the Department of Oncology and Radiotherapy, Medical University of Gdańsk, Poland France country profile • Pascal Pujol, President, BRCA-France; Professor of Medical Genetics, Centre Hospitalier Universitaire de Montpellier • Dominique Stoppa-Lyonnet, Director of the Genetics Department, Institut Curie; Professor of Genetics, University Paris-Descartes Germany country profile • Rita Schmutzler, Director, Centre for Breast and Ovarian Cancer, Cologne • Evelin Schröck, Director, Institute for Clinical Genetics at the TU Dresden Ireland country profile • Liz Yeates, CEO, Marie -
Genomic-Based Personalized Medicine (Reference Committee E)
REPORT 4 OF THE COUNCIL ON SCIENCE AND PUBLIC HEALTH (A-10) Genomic-based Personalized Medicine (Reference Committee E) EXECUTIVE SUMMARY Objectives. The term “personalized medicine” (PM) refers to health care that is informed by each person’s unique clinical, genetic, and environmental information. Clinical integration of PM technologies is enabling health care providers to more easily detect individual differences in susceptibility to particular diseases or in response to specific treatments, then tailor preventive and therapeutic interventions to maximize benefit and minimize harm. This report will review current status of genomic-based PM and challenges to implementing it, and will briefly summarize the activities of key federal agencies, professional organizations, coalitions, and health systems that are working to further the integration of genomic-based technologies into routine care. Data Sources. Literature searches were conducted in the PubMed database for English-language articles published between 2005 and 2010 using the search terms “personalized medicine” and “personalized medicine AND clinic.” To capture reports that may not have been indexed on PubMed, a Google search was also conducted using the search term “personalized medicine.” Additional articles were identified by review of the literature citations in articles and identified from the PubMed and Google searches. Results. Genetic testing has been a routine part of clinical care for a number of years in screening and diagnosis. Recently, a number of genomic-based applications have advanced beyond these screening and diagnostic techniques and are “personalizing” the delivery of care by enabling risk prediction, therapy, and prognosis that is tailored to individual patients. Yet there are challenges to the clinical implementation of PM, such as the lack of genetics knowledge among health care providers, slow generation of clinical validity and utility evidence, a fragmentary oversight and regulatory system, and lack of insurance coverage of PM technologies. -
Biomedicine, Pharmacy and Health Care SECTORAL SERVICES of MATHEMATICAL RESEARCH Spanish Network for Mathematics & Industry for COMPANIES C/ Lope Gómez De Marzoa, S/N
Biomedicine, pharmacy and health care SECTORAL SERVICES OF MATHEMATICAL RESEARCH Spanish Network for Mathematics & Industry FOR COMPANIES C/ Lope Gómez de Marzoa, s/n. Campus Vida | CP 15782 Santiago de Compostela (A Coruña) Tel. 881 813 373 | 881 813 223 [email protected] | www.math-in.net math- in Biomedicine, Pharmacy and Health Care Specialized services Mathematics is an effective tool with proven ability to Biomedicine, Pharmacy and Health industries bring meet the demands and needs of businesses. In Spain, together the supply of 29 research groups of the i-MATH Biomedicine and Pharmacy many innovative solutions emerged from the experience project, of which up to 20 have proven experience from gained by research groups in this field through successful having effectively carried out consulting activities, training • Analysis and design of experiments. • Studies of efficacy and safety of treatments. partnerships with industry over the years. All those courses and other collaborations. The details of these • Characterization/grading of pharmaceutical and medical waste. encouraging cases support its potential in offering an groups can be found in the 'Sectors' section of the • Modelling of mortality tables. increasingly sophisticated and complete service to the platform www.math-in.net. • Numerical simulation of fractures, dental implants and orthodontic brackets. industry. • Biomechanics. Bones formation. The mathematical technology services provided in this • Bioinformatics. • Mathematical Biology. Synthetic Biology. The Spanish Network for Mathematics & Industry sector can be broken down into two blocks (on the one • Computational design of proteins. (math-in) is a stable platform that continues the work hand, Biomedicine and Pharmacy and, on the other • Metabolism. -
Simulation Based Virtual Learning Environment in Medical Genetics
Makransky et al. BMC Medical Education (2016) 16:98 DOI 10.1186/s12909-016-0620-6 RESEARCH ARTICLE Open Access Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education Guido Makransky1*, Mads T. Bonde2, Julie S. G. Wulff1, Jakob Wandall3, Michelle Hood4, Peter A. Creed4, Iben Bache5,6, Asli Silahtaroglu5 and Anne Nørremølle5 Abstract Background: Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation based learning environments increase students’ knowledge, intrinsic motivation, and self-efficacy, and help them generalize from laboratory analyses to clinical practice and health decision-making. Methods: An entire class of 300 University of Copenhagen first-year undergraduate students, most with a major in medicine, received a 2-h training session in a simulation based learning environment. The main outcomes were pre- to post- changes in knowledge, intrinsic motivation, and self-efficacy, together with post-intervention evaluation of the effect of the simulation on student understanding of everyday clinical practice were demonstrated. Results: Knowledge (Cohen’s d = 0.73), intrinsic motivation (d =0.24),andself-efficacy(d = 0.46) significantly increased from the pre- to post-test. Low knowledge students showed the greatest increases in knowledge (d =3.35)andself- efficacy (d = 0.61), but a non-significant increase in intrinsic motivation (d = 0.22). The medium and high knowledge students showed significant increases in knowledge (d = 1.45 and 0.36, respectively), motivation (d = 0.22 and 0.31), and self-efficacy (d = 0.36 and 0.52, respectively). -
Biomedicine and Health Innovation
Biomedicine and Health Innovation SYNTHESIS REPORT • Industrial Biotechnology • Green Growth • Bio-based Products • Measuring Performance OECD Innovation Strategy June 2010 Biomedicine and Health Innovation Synthesis Report November 2010 2 BIOMEDICINE AND HEALTH INNOVATION: SYNTHESIS REPORT Table of contents BIOMEDICINE AND HEALTH INNOVATION: SYNTHESIS REPORT ........................ 3 I. Introduction ................................................................................................................. 3 II. The changing nature of health innovation ............................................................. 4 III. Lessons and policy recommendations ................................................................... 7 IV. New policy challenges from advances in biomedicine ...................................... 14 Annex. Summary of OECD reports on biomedicine and health innovation ........ 19 OECD 2010 BIOMEDICINE AND HEALTH INNOVATION: SYNTHESIS REPORT 3 BIOMEDICINE AND HEALTH INNOVATION SYNTHESIS REPORT I. Introduction Over the past few years, the OECD has done important work in a number of areas related to innovation in biomedicine, including on: genetics and genomics, intellectual property rights and collaborative mechanisms and knowledge markets, health research infrastructures, translational research, regulatory policies that affect the approval and uptake of new technologies, and new business models for bringing health products to market, etc. This synthesis report presents the main lessons and policy messages that emerge