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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.
The course will meet six times from 12:00-1:00pm in Seebohm Conference Room (283 EMRB):
To register for the course, please email:
Leslie HarringtonAdministrative DirectorMedical Scientist Training Program (MSTP)Carver College of Medicinemstp@uiowa.edu
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.
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
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.
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.
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.
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.
No, students will not receive University of Iowa credit for this course.
There is no cost to attend this course.
There will not be homework, exams, or grades. Student attendance and participation will be noted and reported to your summer program.
Yes, if you have past genetics research and have completed a genetics course, or by permission of the instructor.
The course covers a broad range of topics within the field of human genetics.