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Introduction to Human Genomics for Clinical Informaticists, Fall 2017

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This is an Online Course which runs 9/26/17 - 12/19/17, All Classes are Tuesday, 12noon-2pm Pacific Time


This is an academic course designed for clinical informaticists with little or distant genetics education and with a lack of familiarity with evolving genomic standards. We introduce the student to bioinformatics and clinical informatics as we unveil and examine the marvels of DNA and genomics through a series of clinical cases. You will learn about FHIR Genomics resources; cancer genetics; immunogenetics; genomics-EHR integration challenges; pharmacogenomics; Next Generation Sequencing / Variant Discovery; HL7 Genomics standards; CRISPR/Cas9; and much more. Overall, content is ~60% clinical and ~40% bio/informatics.

  • 9/26/17 - Course Overview
  • 10/03/17 - Introduction to DNA/Genetics: Introductory overview to the field of genetics. Introduces the role and structure of DNA. Some basic genetic vocabulary will be provided, along with some “fun facts” about DNA (such as how big it is, and how often it is mutated).
  • 10/10/17 - Overview of the Cell and Cell Division / Central Dogma of Biology, Part 1: An overview of cell structure and organelles (e.g. mitochondria, nucleus, chromosomes, ribosomes) and the process of cell division, including mitosis and meiosis (including crossing-over during meiosis). Part 1 of the central dogma of biology describes the process by which DNA is transcribed to RNA and then translated into proteins.
  • 10/17/17 - Central Dogma of Biology, Part 2 / Genetic Mutations and Polymorphisms: Part 2 of the central dogma session covers regulations of gene expression, including such topics as epigenetics, alternate splicing, and post-translational protein processing. Mutations and Polymorphism discussion covers the different types of variations that are seen in normal and disease producing DNA. The basis of the variation (e.g. through meiosis crossing over, through mutation, etc.) will be described. The magnitude of variation between two individuals will be discussed.
  • 10/24/17 - Genetic Basis of Inheritance: Covers how alterations in one’s DNA can be transmitted to their offspring. Classic Mendelian inheritance patterns, along with inheritance of more complex multi-gene disorders will be discussed. The student will be introduced to family trees and pedigree analysis.
  • 10/31/17 - Genetic Disorders: Covers the biological basis for chromosomal, single-gene, and more complex genetic disorders, including an introduction to immunogenetics. Various mechanisms for discovering the genes responsible for disorders will be reviewed.
  • 11/7/17 - Cancer Genetics: Covers the genetic basis of cancer, including cancer-causing mutations to oncogenes and tumor-suppressor genes. Aspects of precision cancer medicine will be discussed.
  • 11/14/17 - Genetic Testing: Covers the various types of genetic testing that can be performed, from analysis of a single gene for a specific mutation to analysis of one’s entire genome. Specific topics will include pre-natal testing, paternity testing, and disease-specific testing.
  • 11/21/17 - Pharmacogenomics: Includes an overview of drug-gene interactions that affect drug metabolism and drug efficacy, and those that result in adverse drug reactions. We dig in to informatics issues related to standardized data communication and EHR (particularly through clinical decision support) integration.
  • 11/28/17 - Next Generation Sequencing / Variant Discovery: Presents a deeper dive into NGS and the bioinformatics pathways that lead to variant discovery, and that guide a clinician towards determining the clinical significance of identified variants.
  • 12/05/17 - Genetic Engineering: Provides an overview of genetic engineering for the development of human gene products and for editing the genome of human somatic cells. CRISPR/Cas9 technology and evolving clinical applications will be described.
  • 12/12/17 - Clinical Genetics Informatics: Provides a recap of bio/informatics resources and challenges we’ve encountered throughout the course, and introduces a few others to round out the gaps. We’ll walk through a genomic “reanalysis” scenario as an example of how a broad range of bio/informatics standards can be used in a complementary fashion to meet a clinical use case.
  • 12/19/17 - Ethical Issues in Genetics: This is a class participation session where we will be debating two questions: 1. Should parents or society have the right to select or enhance certain genetic traits (e.g. sex, intelligence, athleticism) of their offspring? 2. Who has the right to know your genetic information (e.g. parents of minors, other family members, insurers, employers)?


  • Free

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