Bio 340/343 Introduction to Genetics
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Introduction to Genetics Bios 225
INTRODUCTION TO GENETICS BIOS 225 Course Description This course introduces the student to the basic concepts of inheritance, populations, mutations, and techniques used to assess each of these. Credit: 2 credits Repeatable: No Course Structure The course will be presented in different formats: Lectures with PowerPoints, self-directed learning, discussions and student assignments etc. Competencies This course emphasizes competencies to enhance skills essential for a future health care professional. • Knowledge o Demonstrate content knowledge and skills in foundational courses required by biomedical professionals o Demonstrate information literacy o Demonstrate quantitative reasoning o Demonstrate longitudinal learning through coursework • Critical Thinking o Develop the skills of self-reflection and peer assessment to improve personal performance. o Demonstrate the ability to analyze literature and written material o Demonstrate the ability to distinguish between well-reasoned and poorly reasoned arguments • Communication Skills o Demonstrate effective presentation skills to faculty and peers. o Demonstrate effective listening skills o Demonstrate effective written communication 1 Objectives: Upon completion of BIOS 225 course, the student should be able to describe: • The structure and function of purines, pyrimidines, nucleosides and nucleotides • The structure and functions of nucleic acids (DNA and RNA) • The chromosome anatomy and human karyotypes • The concepts of prokaryotic and eukaryotic DNA replication • The concepts of prokaryotic and eukaryotic RNA transcription and post-transcriptional modifications • The concepts of prokaryotic and eukaryotic protein translation and post-translational modifications • The regulations of prokaryotic and eukaryotic gene expressions • The process of genomic, chromosomal and gene mutations; and its repair mechanism • The Mendel’ hypothesis and molecular mechanisms of genetic inheritance Schedule: Dates and times to be posted at the beginning of the term on the online calendar. -
MOLECULAR GENETICIST UBC's Centre for Applied Neurogenetics, Within the Faculty of Medicine, Division of Neurology and Departm
MOLECULAR GENETICIST UBC’s Centre for Applied Neurogenetics, within the Faculty of Medicine, Division of Neurology and Department of Medical Genetics, is seeking a talented and highly motivated Postdoctoral Fellow/Research scientist with a strong background in human genetics. The post- holder will join a multi-discipline team and contribute significantly to identify genetic variability that either causes or contributes to the onset of neurologic and neurodegenerative disease. His/her role will involve working closely with bioinformatician, scientific and medical staff to elucidate the genetic architecture of these diseases (particularly Parkinson’s disease) using state- of-the-art approaches, which range from classical linkage, genome-wide genotyping, through next-generation sequencing, mainly exome and other targeted sequencing experiments (Farrer M. Nat. Rev. Genet. 2006; Farrer M. et al., Nat. Genet. 2008; Vilarino-Guell C. et al., Am. J. Hum. Genet. 2011). Results are used for diagnostic and therapeutic development in partnership with other academic groups and the Pharmaceutical industry (Lewis J. et al., Mol. Neurodegeneration 2008; Melrose H et al., Neurobio Dis. 2010). He/she may also participate in the supervision of interns and graduate students, as well as grant writing. The successful candidate will hold a Ph.D. specializing in human molecular genetics, with an aptitude for molecular biology, statistical genetics and/or bioinformatics. Must have experience with Sanger sequencing, Sequenom, TaqMan and microsatellite genotyping, and strong interest in NGS applied to human disease is desired. He/she will have demonstrated research acumen and have a track record of successful publications, ideally in neurologic and/or neurodegenerative disease. For its beauty and amenities Vancouver is consistently ranked within the top 5 cities to live in the world. -
Genetics and Other Human Modification Technologies: Sensible International Regulation Or a New Kind of Arms Race?
GENETICS AND OTHER HUMAN MODIFICATION TECHNOLOGIES: SENSIBLE INTERNATIONAL REGULATION OR A NEW KIND OF ARMS RACE? HEARING BEFORE THE SUBCOMMITTEE ON TERRORISM, NONPROLIFERATION, AND TRADE OF THE COMMITTEE ON FOREIGN AFFAIRS HOUSE OF REPRESENTATIVES ONE HUNDRED TENTH CONGRESS SECOND SESSION JUNE 19, 2008 Serial No. 110–201 Printed for the use of the Committee on Foreign Affairs ( Available via the World Wide Web: http://www.foreignaffairs.house.gov/ U.S. GOVERNMENT PRINTING OFFICE 43–068PDF WASHINGTON : 2008 For sale by the Superintendent of Documents, U.S. Government Printing Office Internet: bookstore.gpo.gov Phone: toll free (866) 512–1800; DC area (202) 512–1800 Fax: (202) 512–2104 Mail: Stop IDCC, Washington, DC 20402–0001 COMMITTEE ON FOREIGN AFFAIRS HOWARD L. BERMAN, California, Chairman GARY L. ACKERMAN, New York ILEANA ROS-LEHTINEN, Florida ENI F.H. FALEOMAVAEGA, American CHRISTOPHER H. SMITH, New Jersey Samoa DAN BURTON, Indiana DONALD M. PAYNE, New Jersey ELTON GALLEGLY, California BRAD SHERMAN, California DANA ROHRABACHER, California ROBERT WEXLER, Florida DONALD A. MANZULLO, Illinois ELIOT L. ENGEL, New York EDWARD R. ROYCE, California BILL DELAHUNT, Massachusetts STEVE CHABOT, Ohio GREGORY W. MEEKS, New York THOMAS G. TANCREDO, Colorado DIANE E. WATSON, California RON PAUL, Texas ADAM SMITH, Washington JEFF FLAKE, Arizona RUSS CARNAHAN, Missouri MIKE PENCE, Indiana JOHN S. TANNER, Tennessee JOE WILSON, South Carolina GENE GREEN, Texas JOHN BOOZMAN, Arkansas LYNN C. WOOLSEY, California J. GRESHAM BARRETT, South Carolina SHEILA JACKSON LEE, Texas CONNIE MACK, Florida RUBE´ N HINOJOSA, Texas JEFF FORTENBERRY, Nebraska JOSEPH CROWLEY, New York MICHAEL T. MCCAUL, Texas DAVID WU, Oregon TED POE, Texas BRAD MILLER, North Carolina BOB INGLIS, South Carolina LINDA T. -
Epigenetics the Epicenter for Future Anesthesia Research?
Epigenetics The Epicenter for Future Anesthesia Research? Creed M. Stary, M.D., Ph.D., Hemal H. Patel, Ph.D., David M. Roth, M.D., Ph.D. ONRAD Hal Wadding- approximately 80% of the human C ton (1905–1975), a British genome is indeed associated with embryologist, geneticist, and phi- at least one biochemical func- losopher, proposed the concept tion: regulation of the expression of epigenetics, defined broadly of coding genes.4 These results in as the bridge between an organ- part explain the observation that Downloaded from http://pubs.asahq.org/anesthesiology/article-pdf/123/4/743/372860/20151000_0-00008.pdf by guest on 26 September 2021 ism’s inheritable genome and the the majority of RNA species that observable traits of that organism, are generated are not subsequently such as morphology, physiologi- translated to protein5 and demon- cal properties, and behavior.1 For strate that gene regulation is far example, although a majority of more complex than has been tra- a given organism’s cells share an ditionally believed. identical set of chromosomes, The list of noncoding RNAs embryological development has grown from transfer RNAs results in a wide diversity of cell and ribosomal RNAs to include types, each with individualized the discovery of small nucleolar gene expression patterns and func- “miRs are small (19 to 22 RNAs, long noncoding RNAs, tions. In this light, epigenetics is and, the topic of the current generally now defined as the study nucleotides), highly conserved study by Qiao et al., miRs. miRs of gene expression processes that across species, and.… [Their are important posttranscriptional are impacted by the external envi- regulators that interact with ronment and can be passed to suc- binding to target genes] multiple target mRNAs to coor- cessive generations, independently dinately regulate protein expres- of changes in Watson-Crick DNA results in gene silencing or sion. -
Clinical Exome Sequencing Tip Sheet – Medicare Item Numbers 73358/73359
Clinical exome sequencing Tip sheet – Medicare item numbers 73358/73359 Glossary Chromosome microarray (CMA or molecular Monogenic conditions (as opposed karyotype): CMA has a Medicare item number to polygenic or multifactorial conditions) are for patients presenting with intellectual caused by variants in a single gene. Variants disability, developmental delay, autism, or at may be inherited (dominant or recessive least two congenital anomalies. CMA is the fashion), or may occur spontaneously (de recommended first line test in these cases as novo) showing no family history. it can exclude a chromosome cause of disease which is unlikely to be detected by Whole exome sequence – sequencing only exome. the protein coding genes (exons). The exome is ~2% of the genome and contains ~85% of Gene panel is a set of genes that are known to disease-causing gene variants. be associated with a phenotype or disorder. They help narrow down the search Whole genome sequence – sequencing the for variants of interest to genes with evidence entire genome (all genes, including coding linking them to particular phenotypes and noncoding regions) Human phenotype ontology (HPO) terms Singleton – Analysis of the child only. describe a phenotypic abnormality using a Trio – analysis of the child and both biological standard nomenclature. Ideally, all clinicians parents. and scientists are using the same terms. Variant - A change in the DNA code that Mendeliome refers to the ~5,000 genes (out of differs from a reference genome. about 20,000 protein coding genes) that are known to be associated with monogenic disease. As variants in new genes are identified with evidence linking them with human disease, they are added to the Mendeliome. -
Animal Traditions: Behavioural Inheritance in Evolution
Animal Traditions: Behavioural Inheritance in Evolution Eytan Avital and Eva Jablonka CAMBRIDGE UNIVERSITY PRESS Animal Traditions Behavioural Inheritance in Evolution Animal Traditions maintains that the assumption that the selection of genes supplies both a sufficient explanation of the evolution of behav- iour and a true description of its course is, despite its almost univer- sal acclaim, wrong. Eytan Avital and Eva Jablonka contend that evolutionary explanations must take into account the well-established fact that, in mammals and birds, the transfer of learnt information across generations is both ubiquitous and indispensable. The introduc- tion of the behavioural inheritance system into the Darwinian explanatory scheme enables the authors to offer new interpretations for common behaviours such as maternal behaviours, behavioural conflicts within families, adoption and helping. This approach offers a richer view of heredity and evolution, integrates developmental and evolutionary processes, suggests new lines for research and provides a constructive alternative to both the selfish gene and meme views of the world. It will make stimulating reading for all those interested in evolutionary biology, sociobiology, behavioural ecology and psychology. eytan avital is a lecturer in Zoology in the Department of Natural Sciences at David Yellin College of Education in Jerusalem. He is a highly experienced field biologist, and has written one zoology text and edited several others on zoology and evolution for the Israel Open university. eva jablonka is a senior lecturer in the Cohn Institute for the History and Philosophy of Science and Ideas, at Tel-Aiv University. She is the author of three books on heredity and evolution, most recently Epigenetic Inheritance and Evolution with Marion Lamb. -
Questions You May Want to Ask Your Genetics Team
Q uestions you May Want to Ask Your Child’s Genetics Team Names of Geneticist and Genetic Counselor: ________________________________________ Phone/Contact Information: _____________________________________________________ Appointment Date: ____________________________________________________________ Next Appointment Date: ________________________________________________________ A “genetics team” is made up of a The purpose of a genetic testing or exam is to find out if the cause of your child’s hearing loss is genetic. About sixty clinical geneticist, a genetic counselor, percent of all hearing loss in babies is caused by changes in and other health care professionals. genes. Genes contain the instructions that tell a person’s cells A clinical geneticist is a doctor who how to grow and support the body. Some changes in a gene can cause hearing loss. Hearing loss can also be caused by specializes in diagnosing and caring infections, certain medication, and risks such as prolonged for people with genetic conditions. loud noise in the environment. For many children, the cause of hearing loss may not be known. A genetic counselor is a health care professional who talks with people The genetics team will ask you questions about your child and family. They will do a complete physical exam and may about the risk for genetic conditions recommend that your child and you have a blood test. They and provides counseling and support. may suggest your child see another doctor or specialist to Members of the genetics team work help them better understand the cause of your child’s hearing loss. Knowing the cause may help you and all the professionals together during a genetics exam. who work with your child better plan for his/her future needs. -
Detailed Course Matrix and Scheme of Evaluation for Integrated B.Sc. – M.Sc. in Biological Sciences (Revised) SEMESTER –
Detailed course matrix and scheme of evaluation for Integrated B.Sc. – M.Sc. in Biological Sciences (Revised) SEMESTER – I Total Duration of Maximum *Internal Course code Course Title Hrs / week Total marks credits examination (hrs) marks Assessment Theory Systematics and diversity of Non- IBS101T 4 4 3 70 30 100 vascular Plants (core) Systematics and diversity of IBS102T 4 4 3 70 30 100 Invertebrates (core) IBS103T Biophysical chemistry(core) 4 4 3 70 30 100 IBS104T Computer applications & IT (SEC) 2 2 2 35 15 50 Language I-1 IBS105T 2 2 3 70 30 100 (Kannada / Hindi) IBS106T Language I-1 (English) 2 2 3 70 30 100 Practical Systematics and diversity of Non- IBS107P 4 2 4 35 15 50 vascular Plant (core) Systematics and diversity of IBS108P 4 2 4 35 15 50 Invertebrates (core) IBS109P Biophysical chemistry (core) 4 2 4 35 15 50 Co-curricular & Extra-curricular - Pass/Fail - - 50 50 activities SEMESTER – II Total Duration of Maximum *Internal Course code Course Title Hrs / week Total marks credits examination (hrs) marks Assessment Theory Systematics and diversity of IBS201T 4 4 3 70 30 100 Vascular Plants (core) Systematics and diversity of 4 IBS202T 4 3 70 30 100 Vertebrates (core) 4 IBS203T Bio-organic chemistry (core) 4 3 70 30 100 2 IBS204T Communicative English (AEC) 2 2 35 15 50 Language I-2 2 IBS205T 2 3 70 30 100 (Kannada / Hindi) 2 IBS206T Language I-2 (English) 2 3 70 30 100 Practical Systematics and diversity of 4 IBS207P 2 4 35 15 50 Vascular Plant(core) Systematics and diversity of 4 IBS208P 2 4 35 15 50 Vertebrates(core) 4 IBS209P -
INTRODUCTION to GENETICS Table of Contents Heredity, Historical
INTRODUCTION TO GENETICS Table of Contents Heredity, historical perspectives | The Monk and his peas | Principle of segregation Dihybrid Crosses | Mutations | Genetic Terms | Links Heredity, Historical Perspective | Back to Top For much of human history people were unaware of the scientific details of how babies were conceived and how heredity worked. Clearly they were conceived, and clearly there was some hereditary connection between parents and children, but the mechanisms were not readily apparent. The Greek philosophers had a variety of ideas: Theophrastus proposed that male flowers caused female flowers to ripen; Hippocrates speculated that "seeds" were produced by various body parts and transmitted to offspring at the time of conception, and Aristotle thought that male and female semen mixed at conception. Aeschylus, in 458 BC, proposed the male as the parent, with the female as a "nurse for the young life sown within her". During the 1700s, Dutch microscopist Anton van Leeuwenhoek (1632-1723) discovered "animalcules" in the sperm of humans and other animals. Some scientists speculated they saw a "little man" (homunculus) inside each sperm. These scientists formed a school of thought known as the "spermists". They contended the only contributions of the female to the next generation were the womb in which the homunculus grew, and prenatal influences of the womb. An opposing school of thought, the ovists, believed that the future human was in the egg, and that sperm merely stimulated the growth of the egg. Ovists thought women carried eggs containing boy and girl children, and that the gender of the offspring was determined well before conception. -
Guide to Interpreting Genomic Reports: a Genomics Toolkit
Guide to Interpreting Genomic Reports: A Genomics Toolkit A guide to genomic test results for non-genetics providers Created by the Practitioner Education Working Group of the Clinical Sequencing Exploratory Research (CSER) Consortium Genomic Report Toolkit Authors Kelly East, MS, CGC, Wendy Chung MD, PhD, Kate Foreman, MS, CGC, Mari Gilmore, MS, CGC, Michele Gornick, PhD, Lucia Hindorff, PhD, Tia Kauffman, MPH, Donna Messersmith , PhD, Cindy Prows, MSN, APRN, CNS, Elena Stoffel, MD, Joon-Ho Yu, MPh, PhD and Sharon Plon, MD, PhD About this resource This resource was created by a team of genomic testing experts. It is designed to help non-geneticist healthcare providers to understand genomic medicine and genome sequencing. The CSER Consortium1 is an NIH-funded group exploring genomic testing in clinical settings. Acknowledgements This work was conducted as part of the Clinical Sequencing Exploratory Research (CSER) Consortium, grants U01 HG006485, U01 HG006485, U01 HG006546, U01 HG006492, UM1 HG007301, UM1 HG007292, UM1 HG006508, U01 HG006487, U01 HG006507, R01 HG006618, and U01 HG007307. Special thanks to Alexandria Wyatt and Hugo O’Campo for graphic design and layout, Jill Pope for technical editing, and the entire CSER Practitioner Education Working Group for their time, energy, and support in developing this resource. Contents 1 Introduction and Overview ................................................................ 3 2 Diagnostic Results Related to Patient Symptoms: Pathogenic and Likely Pathogenic Variants . 8 3 Uncertain Results -
2014-2015 and Is Accurate and Current, to the Greatest Extent Possible, As of June 2014
Cover Cover 1 University’s Mission Statement James B. Duke’s founding Indenture of Duke University directed the members of the University to “provide real leadership in the educational world” by choosing individuals of “outstanding character, ability and vision” to serve as its officers, trustees and faculty; by carefully selecting students of “character, determination and application;” and by pursuing those areas of teaching and scholarship that would “most help to develop our resources, increase our wisdom and promote human happiness.” To these ends, the mission of Duke University is to provide a superior liberal education to undergraduate students, attending not only to their intellectual growth but also to their development as adults committed to high ethical standards and full participation as leaders in their communities; to prepare future members of the learned professions for lives of skilled and ethical service by providing excellent graduate and professional education; to advance the frontiers of knowledge and contribute boldly to the international community of scholarship; to promote an intellectual environment built on a commitment to free and open inquiry; to help those who suffer, cure disease and promote health, through sophisticated medical research and thoughtful patient care; to provide wide ranging educational opportunities, on and beyond our campuses, for traditional students, active professionals and life-long learners using the power of information technologies; and to promote a deep appreciation for the range of human difference and potential, a sense of the obligations and rewards of citizenship, and a commitment to learning, freedom and truth. By pursuing these objectives with vision and integrity, Duke University seeks to engage the mind, elevate the spirit, and stimulate the best effort of all who are associated with the University; to contribute in diverse ways to the local community, the state, the nation and the world; and to attain and maintain a place of real leadership in all that we do. -
DP-Genome-Editing-EN-Web
Discussion paper focusing on the scientific relevance of genome editing and on the ethical, legal and societal issues potentially involved ISSUED BY THE ETHICS COUNCIL OF THE MAX PLANCK SOCIETY 1. Introduction and motivation for the discussion paper Christiane Walch-Solimena As an organization dedicated to fundamental research, the intense controversies have emerged around some of its Max Planck Society (MPG) is committed to pursue issues at applications. Thus, first experiments in human embryonic cells the very frontiers of current knowledge and bears a special re- have been performed already since 2015 in China1 intended to sponsibility to critically evaluate novel scientific developments. correct certain disease-causing mutations. These publications Such assessment includes both the scientific potential as well have set off discussions throughout the scientific community as the risks that may be faced if the scientific findings may be and beyond about the ethical and safety implications of this put into practice one day in the future. To this end, the MPG research. An International Summit on Human Genome Editing Ethics Council has been asked to assemble a working group focused on the future of human genome editing and convened to outline and discuss questions arising from a revolutionary by the US National Academy of Medicine, the UK’s Royal Socie- technology that in recent years has opened up unforeseen ty and the Chinese Academy of Sciences in December 2015 opportunities in the manipulation of genes and genomes: the voiced the need for an ongoing global forum. Statements on CRISPR-Cas9 gene editing and genome engineering technolo- ethical and societal questions of genome editing, also cover- gy.