Fundamental Human Genetics, exercise
| Numbering Code | P-PUB01 8N022 SJ90 | Year/Term | 2022 ・ Second semester | |
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| Number of Credits | 1 | Course Type | Seminar | |
| Target Year | Professional degree students | Target Student | ||
| Language | Japanese | Day/Period | Thu.5 | |
| Instructor name | KOSUGI SHINJI (Graduate School of Medicine Professor) | |||
| Outline and Purpose of the Course |
[Basic information] Class date and time: 5th period on Thursdays during the second semester (there may be exceptions) Classroom: Building G, 3rd Floor, Seminar room. Online classes may be conducted depending on circumstances. Level: Advanced Staff in charge: Shinji Kosugi, Takahito Wada, Takeshi 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. |
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| 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 |
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| Schedule and Contents |
[1st lecture] 6/29 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] 10/6 [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] 10/13 [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] 10/20 [Nakajima 1] "Cancer screening": Understand the differences between cancer screening and surveillance for hereditary tumors. [5th lecture] 10/27 [Wada 2] "Patterns of inheritance and risk assessment": Learning standard family tree notation and estimate the pattern of inheritance [6th lecture] 11/10 [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. [7th lecture] 11/17 [Kawasaki 1] “Collecting Medical Information from Medical Records”: Tips to collect information from medical records. Summary of how to collect general medical information. [8th lecture] 11/24 [Wada 3] “Interpretation of Chromosomal Test Results (1)”: An analysis of how to interpret chromosomal test results. [9th lecture] 12/1 [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] 12/22 [Nakajima 2] "Diagnostic imaging related to hereditary tumors": Learning about the characteristics and significance of diagnostic imaging such as upper and lower gastrointestinal endoscopy and abdominal ultrasonography. [12th lecture] 1/5 [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. [13th lecture] 1/12 [Kawasaki 2] “How to Write Medical Records and Documents”: Learning tips to write medical information. [14th lecture] 1/19 [Nakajima 3] “Evaluation of Variants (1)”: Evaluation of the variants detected in tumor-related genes and learning to interpret them. [15th lecture] 1/26 [Wada 2] “Evaluation of Variants (21)”: Evaluation of the variants detected in rare disease related genes and learning to interpret them. |
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| 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 | ||
