PPT-Genetic Approaches to Rare Diseases:

What has worked and what may work for AHC Erin L Heinzen PharmD PhD Center for Human Genome Variation Duke University School of Medicine July 22 2011 eheinzendukeedu EPILEPSY DISORDERS. Batten Disease. June 29-30, 2010 . FDA Public Meeting. “Considerations regarding the review and . regulation of articles for treatment of rare diseases”. Tracy VanHoutan, . Board Member . of the Batten Disease Support and Research Association (BDSRA). How they are caused and why they can be beneficial. What kind of genetic disease?. Can be of two kinds:. Caused by . environmental factors. Hereditary. Genetic disease by environmental factors includes cancer due to the cells undergoing . Gil . McVean. There are no new questions in population genetics. …only new types of data. Genome sequences of entire populations. Data with linkage to deep phenotype information. Data from multiple species. ®. Presentation by NORD. June 16, 2014. NORD. Leading rare disease patient advocacy organization . for > 30 years. Principal resource . for federal agencies and corporations when addressing questions or issues concerning the rare disease community . right to . health. of people living . with. rare . diseases.  . Rare Diseases Policy Event . on . February . 10. th. - 2017 –Geneva - . switzerland. . The contribution of fitima (. international fondation . Dr. Bruce E. Bloom. President and Chief Science Officer. APBDRF Scientific Conference. Dec. 6, 2016. The Problem . The Problem . The Problem . The Problem . 7000 unsolved rare diseases . 500M people affected. Issues in Clinical Trial Design for Rare Diseases. Jonathan C. Goldsmith, MD, FACP. Associate Director Rare Diseases Program/Office of New Drugs. Center for Drug Evaluation and Research. FDA. November 7, 2016. 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.. 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. | Version 02 | March 2020 : Orphanet nomenclature and classification of rare diseases www.orpha.net www.orphadata.org Procedural document on the Orphanet nomenclature and classification of rare Page 53 of 60 Ralf‐Dieter Hilgers*, Franz KönigDepartment of Medical Statistics, RWTH Universit Aachen, Pauwelstr 30, D‐ 52074 Aachen, Germany Dr. RalfDieter Hilgers, Department of Medical Statis 2020. Monogenic and Complex Diseases. Gene therapy is a promising approach for both monogenic and complex diseases. 1. 1. Wang D, Gau G. . Discov Med . 2014;18:151–161; 2. Ginn SL, et al. . J Gene Med. Goals of the diagnosis survey. Measuring the . time necessary to obtain a diagnosis. as a rare disease patient. Understand the . different steps. of the diagnosis journey . Define the . obstacles limiting the access .