PRINCIPLES OF MEDICAL GENETICS
| Lesson Code: |
BE1400 |
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| Professor in charge: |
Papathanasiou Ioanna, Assistant Professor |
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| Other Teachers: |
Trahana Varvara |
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| ECTS: |
3.00 |
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| Type|Type of Course: |
YP | BACKGROUND |
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| Teaching Semester: |
4th Semester |
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| Hours per week: |
2 hours |
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| Total Time (Teaching Hours + Student Workload) |
68 Hours |
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| Prerequisites: |
NO |
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| Language of Instruction: |
Greek |
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| Available for Erasmus: |
NO |
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| Semester Lectures: |
Details/Lectures |
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| Teaching Method: |
Face to face-Lectures
Lectures are not compulsory.
Information and Communication Technologies are used for the preparation of lecture materials, electronic information and the provision of supplementary learning materials to students.
In particular: The lessons are taught using the means used to teach the lessons:
– Common software (eg MS powerpoint) is used to prepare lecture material and display slides and videos.
– The study guide (detailed supplementary material & additional bibliography), the theory and protocols of laboratory exercises, the slides of each lecture as well as related videos and scientific articles are available electronically and online to students through the e-class system of our university.
– Information about the course, the lecturers and their research interests and in general the Biology Laboratory of the School of Medicine is available online through our university's e-class system.
– Common software (eg MS excel) is used for the statistical processing of student evaluation.
Announcements, information, etc. are available online through e-class. Communication is also done via email and MS-TEAMS. |
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| Evaluation Method: |
The evaluation language is Greek.
The course exams are written, last 2 hours, and consist of multiple choice questions and critical or short answer questions. The exam material is the lectures as described above. |
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| Objective Objectives/Desired Results: |
The course is an analytical approach to the principles and applications of Medical Genetics.
The content of the course aims to analyze the types of inheritance of monogenic diseases, the deviations from Mendelian inheritance and analysis of the genetic imprint (Prader Willi/Angelman syndromes, ), trinucleotide repeats (Huntington's disease, fragile X syndrome, myotonic dystrophy), uniparental disomy], on the genetic basis of multifactorial and mitochondrial diseases (LHON hereditary optic neuropathy and gene therapy). In addition, epigenetic modifications of the genome (DNA methylation, histone modifications, small and long non-coding RNA molecules) and their involvement in diseases and malignancies are analyzed and new data are provided for their use in therapeutic interventions. Also, the method of diagnosis, prevention and treatment of monogenic genetic diseases such as cystic fibrosis, α and β hemoglobinopathies, phenylketonuria, G6PD enzyme deficiency, familial hypercholesterolemia, osteogenesis imperfecta as well as chromosomal syndromes is analyzed. The role of pharmacogenetics is highlighted and new advances in genetic repair and gene therapy in genetic diseases are analyzed. Also, special emphasis is placed on genetic analysis, the role of the genes involved and genetic counseling of hereditary cancers, such as breast/ovarian cancer, colon cancer, etc. The course will complete the knowledge that the student has acquired by studying the pathophysiology of various diseases, adding an understanding of the genetic damage that causes them. Therefore, the aim of the course is for the students to understand how to prevent, diagnose and treat the genetic diseases that the student will be called upon to recognize and deal with in the future as a doctor. In all cases the most recent relevant scientific achievements are incorporated.
Upon successful completion of the course, the student will:
- He has understood the modes of inheritance of genetic diseases and the molecular/genetic damage that causes them.
- He has knowledge of the methods of diagnosis, prevention and treatment of genetic diseases, such as cystic fibrosis, α and β hemoglobinopathies, phenylketonuria, G6PD enzyme deficiency, familial hypercholesterolemia, osteogenesis imperfecta, etc. as well as chromosomal syndromes.
- He is able to construct a family tree and distinguish people who are at risk of developing a genetic disease and know the appropriate genetic counseling about the risk of recurrence or how to prevent it.
- Analyzes and considers information from a patient's clinical picture, phenotypic characteristics, laboratory molecular/genetic analyses, in order to diagnose a genetic disease and provide counseling regarding the risk of recurrence
- He has knowledge of the role of gene polymorphisms/mutations in the response to specific drugs and cancer treatments.
He has understood the genetic damage in various hereditary cancers (breast/ovarian cancer, colon cancer, etc.) as well as the genetic counseling regarding the risk of recurrence of the disease in family members of the sufferer.
General Skills
- Search, analysis and synthesis of data and information, using the necessary technologies
- Autonomous work
- Teamwork
- Generating new research ideas
- Respect for the natural environment
- Respect for diversity and multiculturalism
- Demonstrating social, professional and ethical responsibility and sensitivity to gender issues
- Exercise criticism and self-criticism
- Promotion of creative, inductive and free thinking
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| Course URL : |
https://eclass.uth.gr/courses/MED_U_125/ |
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| Course Description: |
THEMATIC SECTIONS
• Types of inheritance of monogenic diseases and reference to diseases inherited with each type.
• Deviations from Mendelian inheritance and reference to diseases. Genetic imprinting (Prader Willi/Angelman syndromes), trinucleotide repeats (Huntington disease, fragile X syndrome, myotonic dystrophy), uniparental disomy.
• Multifactorial and mitochondrial inheritance (hereditary optic neuropathy LHON etc.)
• Epigenetics: contribution of DNA methylation, histone modifications and small/long non-coding RNA molecules to genetic diseases and cancer
• Genetic basis of hemoglobinopathies - diagnosis, prevention and therapeutic approaches
• Biochemical Genetics: genetic basis of enzyme diseases (alkaptonuria, PKU, G6PD deficiency, α1antitrypsin), familial hypercholesterolemia – diagnosis, prevention and therapeutic approaches
• Molecular Genetics: Genotype-phenotype relationship, diagnosis, prevention and therapeutic approaches of genetic diseases, such as cystic fibrosis, osteogenesis imperfecta, Ehlers Danlos syndrome
• Cytogenetics: numerical and structural chromosomal abnormalities, genetic syndromes. Prenatal diagnosis: ways, methodologies of invasive and non-invasive prenatal control.
• Hematologic neoplasms (myelodysplastic syndromes, chronic myeloid leukemia, etc.): cytogenetic abnormalities / molecular damage and targeted therapies.
• Hereditary cancers (multiple endocrine neoplasia syndromes, breast/ovarian, colon cancer, etc.): genetic damage, role of involved genes, genetic counseling.
• Pharmacogenetics: genetic polymorphisms in metabolic enzymes (eg CYP2D6, CYP2C9) and response to drugs (eg codeine, warfarin), in ethanol metabolism enzymes (ADH, ALDH) and response to alcohol, etc. Gene polymorphisms/mutations and response to cancer treatments.
• Gene therapy: viral and non-viral gene transfer vectors, types of gene therapy, genomic modification, stem cells: clinical trials in α1 antitrypsin deficiency, cystic fibrosis, Parkinson's disease, AIDS, cancer.
• Genetic counseling - basic principles, genetic counseling in genetic diseases and hereditary cancers. |
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| Recommended reading: |
- Lesson notes
- Genetics, From Genes to Genomes Hartwell LH et [EVDOXOS 122091129]
- "Medical Genetics" by Thompson & Thompson [SUCCESS 13256587]
Related scientifically periodically: Nature Genetics, Nature Reviews Genetics, Human Molecular Genetics, Trends in Genetics, Human Genetics, Clinical Genetics, Cancer Genetics and Cytogenetics |
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English 
Greek