ILAS Seminar-E2 :Introduction to Human Genetics and Genetic Disease

Numbering Code U-LAS70 10002 SE50 Year/Term 2022 ・ First semester
Number of Credits 2 Course Type seminar
Target Year Mainly 1st year students Target Student For all majors
Language English Day/Period Wed.5
Instructor name Marco,Marques Candeias (Graduate School of Medicine Senior Lecturer)
Outline and Purpose of the Course An overview of human genetic disorders and how current research is creating new treatments. Topics include: single gene disorders, multifactorial disorders; cancer genetics; identification and analysis of human disease genes. Students will learn from recent research articles as well as from a recent text book on human genetics. After learning about the several subjects, the students will present recent research in class and active discussion will be encouraged.
Course Goals The classes will be interactive. Recent exciting research discoveries about human genetics and genetic disease will be introduced and discussed. The students will learn about gene structure and function, mutations and diversity, inheritance, detection and treatment.
Schedule and Contents The following topics will be viewed during a total of 14 classes:
1. The Human Genome: Gene Structure and Function
2. Human Genetic Diversity: Polymorphism or mutation?
3. The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
4. Single-Gene Inheritance
5. Complex Inheritance (known and unknown molecular mechanisms) of Common Multifactorial Disorders
6. Genetic Variation in Populations
7. Identifying the Genetic Basis for Human Disease
8. The Molecular, Biochemical, and Cellular Basis of Genetic Disease
9. The Treatment of Genetic Disease
10. Developmental Genetics and Birth Defects
11. Cancer Genetics

(Total: 14 classes and 1 feedback)
Evaluation Methods and Policy Evaluation will be based on active participation (~20 %), assignments (~50 %) and quizzes/test (~30 %). Those who are absent more than four times will not be credited.
Course Requirements None
Study outside of Class (preparation and review) Some time will be necessary weekly to prepare for the class. Handouts will be available to help with the preparation. During the assignment weeks extra time will be necessary in order to prepare for the presentation in class.
Textbooks Textbooks/References Thompson & Thompson Genetics in Medicine, Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard, (Elsevier Health Sciences), ISBN:0323392067, 9780323392068
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