Course Syllabus
Genomics in Clinical Practice |
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| Semester & Location: |
Spring 2024 - DIS Copenhagen |
| Type & Credits: |
Elective course - 3 credits |
| Major Disciplines: |
Biology, Biomedicine / Biotechnology, Pre-medicine / Health Science |
| Prerequisites: |
One year of biology, one chemistry course, and one course in either molecular biology or genetics, all at university level. |
| Faculty Member: |
Anna Byrjalsen and Matthias Nybro Smith Current students please use the canvas inbox to contact |
| Program contact: |
Science and Health Department |
| Program Director: |
Susana Dietrich |
| Time & Place: |
Mondays and Thursdays, 14:50 - 16:10 Location: N7-C25 |
Instructors
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Guest lecturer
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Ulrik Kristoffer Stoltze M.D. (University of Copenhagen, 2017), PhD (University of Copenhagen, 2023). Former Clinical Genetics resident (Rigshospitalet, 2018-19), General Practice resident (Søborg, 2018), Surgery resident (Herlev Hospital, 2017). POST-fellow at St. Jude Children’s Research Hospital (Memphis, 2016). Active in Genomics research since 2015 with several publications in genetics and bioethics with a focus on childhood cancer. He is conducting one of Denmark’s largest genomics studies offering whole-genome sequencing to any cancer patient under 18 years old. Teaching at DIS since 2017. |
Course Description
This course explores the genomic revolution’s impact on medical science, clinical diagnoses and cutting-edge treatments. We will dive into diagnostic sequencing technologies, pre-implantation, prenatal and preventive medicine, and explore current gene therapies including the promise of genome editing, as well as, debate the multifaceted ethical implications of clinical genomics. This course will focus on clinical genetics and genomics from a practical stand point.
Expected Learning Outcomes
After the successful completion of this course, students will be able to:
- Understand, explain and discuss the science, biology, and history of genetics and genomics
- Recognize and characterize genetic syndromes and discuss their impact on an individual and societal level
- Relate and debate bioethical implications of clinical genomics and prenatal/preimplantation diagnosis
- Understand the technologies of modern genomics and apply them to hypothetical case/situations
Approach to teaching
This course applies several types of teaching modalities, including lectures, reflective group-work, theoretical cases, student-to-student presentations, and in-class discussions. The course also includes graded and ungraded tests/quizzes, a journal club, and e-based exercises.
Required readings
- Relevant pages from the textbook Oxford Desk Reference Clinical Genetics And Genomics.
- Relevant chapters from the book The Gene - An Intimate History.
- Scientific review articles and papers
- Educational videos from Cognito etc.
(please refer to the canvas pages, also attached to each lecture)
Evaluation and Grading
To be eligible for a passing grade in this class all of the assigned work must be completed.
The factors influencing the final grade and their weights are reported in the following table:
| Component | Weight |
| Participation (individual) | 20% |
|
Midterm test (individual) |
25% |
|
Journal club (group) |
20% |
|
Final paper (pairs) |
35% |
| Total | 100% |
Participation
Participation grade is based on
- Attendance and level of preparation
- Engagement in the student’s own learning, as well as that of others
- Contribution to class discussions, journal clubs and field studies
Class participation is an important part of this course and to receive full credit students should be present at all the scheduled classes and actively participate.
Test (individual)
The midterm test will be based on the content of the classes up until the time of the test. The test will include a combination of multiple-choice and short essay questions.
Journal club (group)
For one session of two lectures student-groups will prepare a presentation on a study of either a genomics technology or a genetic diagnosis. At the end of the class they will present their paper’s main results and discussion-points to the other groups.
Final paper (group)
For the final paper, the students will write a paper about a self-chosen subject. There are two models
- Genomics Futurist. The group may write on any subject related to the future of genetics/genomic medicine. Potential topics include:
- Gene therapy
- Cancer prevention
- Reproductive carrier screening
- X-linked disease
- Personalized medicine
- Bioethicist. The group may write on any subject related to the ethical implications of genetics/genomic medicine. Potential topics include:
- Gene therapy
- Prenatal/pre implantation medicine
- Genetic privacy
- Genetic testing of children
- Direct-to-consumer genetics
This paper (1000 words max, not including references, 12-point). Students are asked to lock in their final topic of choice and writing partner shortly after the midterm. All papers must include a min. of 5 and max. of 10 scientific references. Up to 2 figures/tables.
Field Studies
Two field studies are planned for this course.
One will be to the Copenhagen Zoo (more information to follow).
One will be to the government-driven National Genome Center. Here the student will learn about the public strategies currently being explored, that are aimed at improving diagnosis and personalized medicine and debate about the many prospects and challenges in such a project.
Academic Regulations
Please make sure to read the Academic Regulations on the DIS website. There you will find regulations on:
DIS - Study Abroad in Scandinavia - www.DISabroad.org
Lecture topics (subject to change up to 2 weeks prior to class):
Course Summary:
| Date | Details | Due |
|---|---|---|