Iowa Institute of Human Genetics

  • Topics in Human Genetics Short Course 2014

    The objective of the course is to provide persons familiar with genetics a broad overview of gene identification, molecular genetics, complex disease, next generation sequencing, bioinformatics, personalized genomic medicine and the role of the Iowa Institute of Human Genetics in medical care in the 21st century. Each session will include a 45 minute lecture and 15 minutes for discussion and questions. 

    Topics in Human Genetics is open to students wishing to learn more about current topics in Human Genetics who meet the following criteria; individuals must have completed an undergraduate genetics course, are currently in a genetics lab, or have past genetics research experience. Genetics educators are also welcome to attend the course.

    Meeting Dates/Times

    The course will meet six times from 12:00-1:00pm in Seebohm Conference Room (283 EMRB):

    • June 10
    • June 17
    • June 24
    • July 1
    • July 8
    • July 15


    To register for the course, please email:

    Leslie Harrington
    Administrative Director
    Medical Scientist Training Program (MSTP)
    Carver College of Medicine 

    Topics to be covered include

    Session 1

    The first session, “Gene Identification & Molecular Genetics” will focus on 1) strategies for gene identification; 2) choice of candidate genes; 3) screening methods; 4) types of disease causing variants; and 5) mechanisms of action for dominant and recessive mutations. By the end of the session, students should be able to follow a logical flow of experimental design when presented with a candidate region and be able to select the appropriate candidate gene screening method for mutation identification. In addition, students should know the mechanisms of action associated with various genomic variants.

    Session 2

    The second session, “Complex Disease & Functional Confirmation of Disease Genes” will focus on 1) association study design and interpretation; 2) Common disease Rare Variant hypothesis (CDRV); 3) Common disease Common Variant hypothesis (CDCV); and 4) experimental strategies that can be utilized to confirm a disease gene identified in a next generation sequencing project.  By the end of the session students should be able to assess an association study design as well interpret the results.  Students should also be able to define and identify common and rare variants in genetic disease.

    Session 3

    The third session, “Gene Discovery Case Study” will focus on 1) application of the principles covered in the first two sessions to a real world research study.  

    Session 4

    The fourth session, “Next Generation Sequencing Platforms and Applications” will focus on 1) differences between next generation sequencing technologies; 2) applications and study design issues regarding next generation sequencing; 3) introduction to the transcriptome.  By the end of the session students should be able to select an appropriate next generation sequencing platform for a given experimental question as well as be able to outline an analysis approach to identify a disease causing variant by building upon the lessons learned throughout the course.  Dr. Kevin Knudtson, Director of the IIHG Genomics Division will be the guest seminar speaker.

    Session 5

    The fifth session, “Bioinformatics” will provide an overview of what is bioinformatics, types of analyses, and available resources through the Iowa Institute of Human Genetics.  Dr. Tom Bair, Director of the IIHG Bioinformatics Division will be the guest seminar speaker.

    Session 6

    The sixth session, “Ethics and Personalized Genomic Medicine” will focus on 1) what is personalized genomic medicine; 2) ACMG reported variant recommendations; 3) any topics the from the previous sessions the students wish to go into more detail; 4) any topics the students would like to know more about that were not covered in previous lectures. 

    Frequently Asked Questions

    Will I receive credit for this course?

    No, students will not receive University of Iowa credit for this course.

    How much does the course cost?

    There is no cost to attend this course.

    Will there be homework, exams or grades?

    There will not be homework, exams, or grades. Student attendance and participation will be noted and reported to your summer program.

    Can I take the course even if my current research is not related to genetics?

    Yes, if you have past genetics research and have completed a genetics course, or by permission of the instructor. 

    Will the course go into detail on one topic or cover a broad range of topics?

    The course covers a broad range of topics within the field of human genetics. 

    Individuals with disabilities are encouraged to attend all University of Iowa sponsored events. If you are a person with a disability who requires an accommodation in order to participate in this program, please contact the IIHG in advance at (319) 335-3578 or