Introduction to Human Genomics for Clinical Informaticists

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This is only a keep informed registration, class registration will come later

  • Please register if you wish to be kept informed about the upcoming Fall 2017 Genomics course. Once we finalize the course, a separate registration page will be provided where one can register and pay for the course. Course PPTs and related materials from last semester are here:; Videos are here:

    • Details on the course:
      • This is an academic course designed for clinical informaticists with little to no prior biology experience, and clinicians with little to no prior genetics education. 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. The course is comprised of 12 2-hour weekly webinars. The Fall agenda is shaping up, and may undergo some changes:

    Course Overview

    1. 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).

    2. Overview of the Cell and Cell Division: 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).

    3. Central Dogma of Biology: Describes the process by which DNA is transcribed to RNA and then translated into proteins. We will discuss what a protein is. Variations to the central dogma will be described, including such topics as epigenetics, alternate splicing, and post-translational protein processing.

    4. Genetic Mutations and Polymorphisms: Covers the different types of changes and 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.

    5. 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.

    6. 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.

    7. 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.

    8. 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. Pharmacogenomics is introduced.

    9. 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.

    10. 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.

    11. 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. 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)?

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