PPT-Lecture 1 Quantifying the genetic contribution to disease

Naomi Wray 2016 Module 18 Statistical amp Quantitative Genetics of Disease 1 Aims of Lecture 1 If a disease affects 1 of the population and has heritability 80 We will show why these statements are . Implications for . Germline. Editing. Human Diseases and Traits. Rare, . Mendelian. Cystic fibrosis, . Huntington Disease,. Diastrophic Dysplasia . …. Common, . polygenic. Heart disease, Alzheimer’s. Outline. Genetic Diseases Background. Recessive Genetic Diseases. Dominant Genetic Diseases. Pedigrees. What is a . G. enetic . D. isease?. Definition: A . genetic disease . is a disease that is inherited from one’s parents and is present from the moment the zygote is created.. Jode Edwards, USDA ARS. Dustin Mclean, University of . Guleph. Yunfei. Jiang, University of Guelph. Elizabeth, Lee, University of Guelph. Mark Mikel, University of Illinois. Martin Bohn, University of Illinois. Genomic ReportsA Genomics Toolkitnon-genetics providersCreated by the Practitioner Education Working Group of the Clinical Sequencing Exploratory Research CSER ConsortiumAuthorsKelly East MS CGC Wendy Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . SCREENing. Kathy Morris, . mssw. , . lcgc. Senior genetic counselor. objectives. Know current ACOG guidelines about genetic disease carrier screening. Name 3 ethnic-specific genetic diseases. Know how to order or arrange carrier screening. Video-Down Syndrome. http://www.sosq.vcu.edu/videos.aspx. The image you see is called a karyotype and there is a chromosome missing. How do you think this happens? . Work with a partner and answer the following question:. Introduction and Application in Genetic Engineering. Genetic engineering. , . the artificial manipulation, modification, and recombination of DNA or other nucleic acid molecules in order to modify an organism or population of organisms. . common . disease. AKA . –. everything is much harder in a binary trait. Naomi Wray. 1. Missing heritability . psychiatric disorders. N cases. N loci. h. 2. SNP-h. 2. Schizophrenia. 67K. 245. 80. 26. Huntington Society of Canada 151 Frederick St., Suite 400, Kitchener ON N2H 2M2 1-800-998-7398 info@huntingtonsociety.ca www.huntingtonsociety.ca Charitable Registration Number 11896 5516 RR0001 Wh Naomi Wray. 2016 Module 18: . Statistical & Quantitative Genetics of Disease. 1. Misunderstandings in MZ twins. “Estimates of heritability of liability to a number of diseases turned out to be quite high. This was a surprise to those not versed in quantitative genetics who tended to think that low concordances rates in MZ twins implied low heritability.” Fraser (1976) . Study. NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE. Genetic Testing: . It’s a Relative Question. by. Melissa R. Eslinger, Ryan E. Rodriguez, and Jonathan W. Roginski. United States Military Academy, West Point, NY. st. September 2018. The Importance Of Genetics On Longevity . Risk. A . Study Based On Half A Million Lives In The UK Biobank Cohort. Peter Banthorpe. SVP, Global Head of Research and Data Analytics. Julianne O’Daniel, MS, CGC. Joan Scott, MS, CGC. Elizabeth . Varga. , MS, CGC. VO Speights, DO. Erynn. Gordon, MS, CGC. March 2012. TRiG Curriculum: Lecture 4. 1. What will be the pathology report of the future?.