Fundamental Human Genetics, exercise

Numbering Code P-PUB01 8N022 SJ90 Year/Term 2021 ・ Second semester
Number of Credits 1 Course Type Seminar
Target Year Professional degree students Target Student
Language Japanese Day/Period
Instructor name KOSUGI SHINJI (Graduate School of Medicine Professor)
Outline and Purpose of the Course [Basic information]
Class date and time: 6th period on Thursdays during the second semester (there may be exceptions)
Classroom: Building G, 3rd Floor, Seminar room
Level: Advanced
Staff in charge: Shinji Kosugi, Takahito Wada, Ken Nakajima, Takahiro Yamada, Hideaki Sawai (Hyogo College of Medicine), Hidenori Kawasaki

[Course overview]
The purpose of this course is to provide the students with a concrete understanding of the analysis of genes and chromosomes, one of the fundamental abilities of genetic counselors, through practical experience. The students will engage in the exercises of family tree creation and estimation of the mode(s) of inheritance and genetic risk, and will learn about clinical image diagnosis and medical follow-up practices.
Course Goals ・Capable of creating a family tree, estimating the mode(s) of inheritance, and calculating the recurrence probability accurately
・Understand genetic testing methods and be able to explain them accurately
Schedule and Contents [1st lecture] 6/23 Wednesday 6th period [Sawai] “Bone System Diseases and X-Ray/Ultrasound Test”: This lecture outlines bone system diseases (which are common fetus congenital anomalies) and provides the X-ray interpretation skills required to diagnose them.
[2nd lecture] 10/7 [Wada 1] “Family Tree Creation Exercise”: A look at the standard method of creating family trees and an analysis of the mode of inheritance and genetic risk estimation.
[3rd lecture] 10/28 [Yamada 1] “Fetal Ultrasonography”: A look at ultrasonography in early to mid-pregnancy, especially soft markers associated with chromosomal abnormalities. Also, an analysis of ultrasonography performed in the stages of late pregnancy and its significance.
[4th lecture] 11/4 [Wada 2] “Molecular Genetic Analysis”: Learn the method of molecular genetic analysis and how to interpret the results.
[5th lecture] 11/11 [Yamada 2] “Effects of Radiation, Environmental Factors, and Infectious Diseases in the Fetus”: An analysis of the environmental factors responsible for about 5% of congenital defects.
[6th lecture] 10/29 [Kawasaki 1] “Collecting Medical Information from Medical Records”: Tips to collect information from medical records. Summary of how to collect general medical information.
[7th lecture] 11/25 [Nakajima 1]
[8th lecture] 12/2 [Wada 3] “Interpretation of Chromosomal Test Results (1)”: An analysis of how to interpret chromosomal test results.
[9th lecture] 12/9 [Yamada 3] “Miscarriage Chorionic Villus Sampling”: More than half of miscarriages in early pregnancy have chromosomal abnormalities. This lecture looks at the significance of testing in miscarriage patients.
[10th lecture] 12/16 [Wada 4] “Interpreting Chromosomal Test Results (2)”: A look at how cytogenetic tests other than chromosomal tests are conducted (especially array CGH).
[11th lecture] 12/23 [Yamada 4] “Amniotic Fluid Chromosomal Test”: A look at how amniotic fluid chromosomal tests are performed and how to provide an appropriate explanation for the results.
[12th lecture] 1/6 [Wada 5] “Evaluation of Variants”: An analysis of how to interpret the results of comprehensive genetic tests.
[13th lecture] 1/13 [Yamada 5] “Evaluation of Variants”: An analysis of how to evaluate and interpret detected variants.
[14th lecture] 1/20 [Kawasaki 2] “How to Write Medical Records and Documents”: Learn tips to write medical information.
[15th lecture] 1/27 [Nakajima 2]
Evaluation Methods and Policy Comprehensive evaluation of active participation in exercises, reports, presentations, attendance, and other activities.
Course Requirements Compulsory subject only for first-year students of the Genetic Counselor Course (pre-determined subject)
Study outside of Class (preparation and review) Instructions will be given accordingly
Textbooks Textbooks/References Other handouts distributed in class