Clinical Genetics and Genetic Counseling
| Numbering Code | P-PUB01 8N021 LJ90 | Year/Term | 2022 ・ First semester | |
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| Number of Credits | 3 | Course Type | Lecture | |
| 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: 4th and 5th periods on Wednesdays (there may be exceptions) Classroom: Building G, 3rd Floor, Seminar room, Level: Basic Staff in charge: Shinji Kosugi, Takahito Wada, Takeshi Nakajima, Takahiro Yamada, Hideaki Sawai (Hyogo College of Medicine), Masayo Takahashi, Hidenori Kawasaki, Takayuki Okano [Course overview] General lectures on the basic concepts, models, and current state of genetic counseling. The students are expected to acquire a level of knowledge and vision about the most common diseases in order to allow them to be part of a genetic medicine team. Also, to provide the students with skills to solve problems in the field of genetic medicine, the course offers lectures on clinical genetics and is focused on family relationships and genetic counseling as part of team medical care. Monohereditary diseases, chromosomal abnormalities, multiple malformations, recurrent miscarriage, familial tumors, neurodegenerative diseases, and multifactorial diseases are discussed in detail through the lectures. |
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| Course Goals | Capable of explaining the pathology, causes, mode(s) of inheritance, and genetic problems of major hereditary illnesses. Also, being able to explain the basic concepts of genetic counseling for these ailments, as well as the main considerations about them. | |||
| Schedule and Contents |
[1st lecture] 4/20, 4th period (First clinical auditorium) [Nakajima] General Theory of Hereditary Cancer (1): General Theory of Familial Tumors (1): The concepts of familial tumors, somatic and germ-line mutations, tumor (suppressor) genes, and pre-symptomatic diagnosis. [2nd lecture] 4/20, 6th period [Wada] Congenital Malformation Syndrome: A look at the diagnosis/rehabilitation and genetic counseling for congenital malformation syndrome. [3rd lecture] 4/27,4th period [Nakajima] Hereditary Cancer (2) : A look at familial adenomatous polyposis and Lynch syndrome as typical hereditary cancer, as well as genetic counseling practices for those diseases. [4th lecture] 4/27, 5th period [Wada] Autosomal Abnormalities (1): A look at genetic counseling for diseases caused by numerical and structural abnormalities of autosomes. [5th lecture] 4/27, 6th period [Yamada]Infertility and Assisted Reproductive Technology: Historical background, current state, specific skills, legal regulations, ethical issues, and guidelines. Autosomal abnormalities and genetic counseling. [6th lecture] 5/11, 4th period [Wada] Autosomal Abnormalities (2): A look at the diagnosis, treatment, and rehabilitation of microdeletion syndrome and chromatin-related illnesses. [7th lecture] 5/11, 5th period [Wada] Sex Chromosomes Abnormalities: Learn about genetic counseling for Turner syndrome and Klinefelter syndrome, X-linked inheritance disease, and the sex spectrum. [8th lecture] 5/11, 6th period [Yamada]Prenatal Diagnosis: A look at the current state, specific skills, legal regulations, and ethical issues, as well as actual genetic counseling. practices [9th lecture] 5/18, 4th period [Yamada]Infertility (Recurrent Miscarriage): The concepts, pathology, causes, treatment of infecundity and recurrent miscarriage, the involvement of genetic factors such as sperm dysfunction due to oligospermia and chromosomal abnormal pregnancy in translocation-type carriers, as well as genetic counseling for those cases. [10th lecture]5/18, 5th period [Wada]Hereditary Neurological Disorder (1): A look at genetic counseling for triplet repeat diseases and Fabry disease. [11th lecture] 5/25, 4th period [Wada] Muscular Dystrophy: A look at genetic counseling for Duchenne/Becker Muscular dystrophy. [12th lecture]5/25, 5th period [Wada] Hereditary Neurological Disorder (2) A look at genetic counseling for neurocutaneous syndrome and spinal muscular atrophy. [13th lecture]6/1, 4th period [Yamada] Fetus Diagnosis and Perinatal Control: A look at obstetrics perinatal management, which is performed based on fetal information. [14th lecture] 6/1, 5th period [Nakajima] Hereditary cancer (3): Hereditary breast and ovarian cancer (HBOC). Outline of the concepts, pathology, mode(s) of inheritance, diagnosis, treatment, and genetic counseling for hereditary breast and ovarian cancer (HBOC) as specific diseases of hereditary cancer. [15th lecture] 6/8, 4th period [Wada]Hereditary Cardiovascular Disease: A look at genetic counseling for hereditary cardiovascular diseases such as Long QT syndrome and Marfan syndrome. [16th lecture] 6/15, 4th period [Kokugi] Hereditary cancer (4): Multiple endocrine neoplasia: Outline of the concepts, pathology, mode(s) of inheritance, diagnosis, treatment, and genetic counseling for multiple endocrine neoplasia types 1 and 2 as specific diseases of familial tumors. [17th lecture] 6/22, 4th period [Nakajima] Computer Information: Search Medical database required in genetic medicine and patient group information. [18th lecture]6/22, 5th period [Yamada]Genetic practice and medical system Learn about the clinical genetic medical system [19th lecture] 7/6, 4th period [Okano] Genetic Deafness: The concepts, pathology, mode(s) of inheritance, diagnosis (syndromic and non-syndromic hearing loss), genetic heterogeneity, treatment and rehabilitation, and genetic counseling. [20th lecture] 7/6, 5th period [Masayo Takahashi] Hereditary Retinal Disease and Regenerative Medicine: Retinitis pigmentosa and age-related macular degeneration. The concepts, pathology, mode(s) of inheritance, diagnosis, genetic heterogeneity, treatment, and regenerative medicine. [21st lecture]7/13, 3rd period [Kawasaki]Intractable diseases: Intractable Diseases and Medical Expenses Subsidy / Welfare System [22nd lecture] 7/13, 4th period [Nakajima]Hereditary cancer (5)：Li-Fraumeni Syndrome: Outline of the concepts, pathology, mode(s) of inheritance, diagnosis, treatment, and genetic counseling for Li-Fraumeni Syndrome as specific diseases of hereditary cancer. [23rd lecture]7/13, 5th period [Yamada] Information retrieval: Internet security basics [24th lecture] 7/20, 4th period [Wada] Final test: Written test [25th lecture] 8/3, 4th period [Nakajima] Retest: Written test |
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| Evaluation Methods and Policy | Comprehensive evaluation of tests, reports, presentations, attendance, and other activities. | |||
| Course Requirements |
Compulsory subject for first-year students in the Genetic Counselor Course If taken as an elective, we recommend taking it along with “Basic Human Genetics.” Availability for students majoring in Human Health Sciences: Contact us in advance (must be taken along with Basic Human Genetics) |
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| Study outside of Class (preparation and review) | Instructions will be given accordingly | |||
| Textbooks | Textbooks/References | Also, see Basic Human Genetics | ||
