Human Genetics and Genomics (5cr)

Objectives (course unit)

The student
• understands the general structure of the genome and its abnormalities to diseases, and is able to apply knowledge in working as an expert in the healthcare

Content (course unit)

• Structure of DNA, genes, chromosomes
• Correlate mutations and chromosomal abnor-malities to diseases
• Polygenic risk score
• Direct-to-Consumer Genetic Testing

Assessment criteria, satisfactory (1-2) (course unit)

The student
- demonstrates competence in the basic content of the course. There is lack in his /her ability to apply them to working life.

Assessment criteria, good (3-4) (course unit)

The student
- demonstrates good competence in the content of the course and is able to apply
knowledge to working life

Assessment criteria, excellent (5) (course unit)

The student
- demonstrates excellent competence in the content of the course and is able to apply versatile knowledge to his / her own work as an expert in healthcare

Location and time

On-line meetings via Zoom, F2F-classroom meetings if possible.

Exam schedules

Dates of the exams will be decided in the beginning of the studies.

Assessment scale

0-5

Teaching methods

Flipped learning, case-based collaborative learning, independent studying.

Learning materials

Reed E. Pyeritz, Bruce R. Korf, and Wayne W. Grody: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Foundations
https://ebookcentral.proquest.com/lib/tampere/detail.action?docID=5602409&pq-origsite=primo
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Tom Strachan and Andrew Read: Human Molecular Genetics
https://ebookcentral.proquest.com/lib/tampere/detail.action?docID=5992785
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Moodle: material provided by the teachers (all rights reserved)

Student workload

5 ECTS = 135 hours of the students work including on-line meetings/F2F meetings 16 hours.

Content scheduling

25th of October, 2021
Structure of the genome (Hammar)
- structure of the chromosomes, genes, DNA
- meiosis, mitosis
- gametogenesis
- epigenetics
18th of November, 2021
Mutations and chromosomal abnormalities (Hiipakka)
- mutations and their effects
- techniques for detecting abnormalities
- methods of finding a diseases gene
14th of December, 2021
Inheritance patterns an mechanisms (Hiipakka)
- recombination, non-disjunction, sister chromatin exchange
- X-inactivation
14th of December, 2021
Polygenic risk score (Hammar)
- multifactorial diseases
Direct-to-Consumer Genetic Testing (Hammar)
- short look at what is available and what is their impact

Completion alternatives

In case that the previous studies cover the field of this course the student can apply theri acceptation to replace the attendance on this course.