Face to Face:

Attendance of lectures is not mandatory. 

Information and Communication Technologies are used for the preparation of the lecture material, the online information and provision of supplementary learning material to students.

Specifically:

• Common software (e.g. MS powerpoint) is used to prepare lecture material and display slides and videos.
• The study guide (detailed supplementary material & additional bibliography), the slides of each lecture as well as relevant videos and scientific articles made available electronically and online to students through the e-class system of our university.
• Information about the course, instructors, and their research interests and in general the Laboratory of Biology of the Faculty of Medicine are available online through the e-class system of our university.
• Common software (e.g. MS excel) is used to statistically process student assessment.

Announcements, information etc are available online via e-class. Communication is also done via e-mail and MS-Teams.

The language of assessment is Greek.

Evaluation methods.

The course exams are written, lasting 2 hours, and consist of critical or short answer questions as well as multiple choice questions. The material to be examined is lectures and tutorial material as described above.

The course provides an analytical approach to the principles and applications of Medical Genetics. It focuses on the analysis of modes oof inheritance of monogenic diseases, deviations from Mendelian inheritance, analysis of genetic imprinting (examples of Prader Willi/Angelman syndromes), trinucleotide repeats (examples of the following diseases: Huntington, fragile X syndrome, myotonic dystrophy), uniparental disomy, as well as on the genetic basis of multifactorial and mitochondrial diseases (eg LHON hereditary optic neuropathy and gene therapy). Also, 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 are analyzed. The role of pharmacogenetics as well as advances in gene editing and therapy are highlighted. In addition, special emphasis is given on the genetic analysis and genetic counseling of hereditary cancers, such as breast/ovarian cancer, colon cancer, etc. The course will assist on the knowledge, that the student has acquired by studying the pathophysiology of various diseases, through understanding the genetic basis of them. Therefore, the ultimate aim of the course is to provide the knowledge to the students as future doctors, to know the diagnosis, prevention and  treatment of genetic diseases. In all above mentioned diseases, the most recent relevant scientific achievements are provided.

Upon successful completion of the course, the student will be able to:

• Understand the modes of inheritance of genetic diseases and the underlying responsible molecular/genetic defects
• Know the methods of diagnosis, prevention and therapy of genetic diseases, such as cystic fibrosis, α and β hemoglobinopathies, phenylketonuria, G6PD enzyme deficiency, familial hypercholesterolemia, osteogenesis imperfecta as well as chromosomal syndromes
• Construct a family tree and distinguish people who are at risk of developing a genetic disease, know the appropriate genetic counseling and recurrence risk or ways of prevention
• Analyze and collect information from patient’s clinical data, phenotypical characteristics, laboratory molecular/genetic analyses aiming to diagnose a genetic disease.
• Understand the role of pharmacogenetic polymorphisms and mutations and their relationship with specific drugs and cancer treatments, respectively
• Understand the genetic basis of various types of hereditary cancers (breast/ovarian cancer, colon cancer, etc.) as well as the appropriate genetic counseling

General Abilities

Research, analysis and synthesis of data and information

Using the necessary technologies

Autonomous work Teamwork

Work in an interdisciplinary environment

Production of new research ideas

Respect for diversity and multiculturalism

Respect for the natural environment

Demonstration of social, professional and moral responsibility and sensitivity in gender issues

Exercise criticism and self-criticism

Promoting free, creative and inductive thinking

The course includes the following modules:

• Description of different modes of Inheritance- Examples are provided for each type
• Deviations from mendelian inheritance and diseases. Genetic imprinting syndromes (Prader Willi/Angelman syndromes), trinucleotide repeats diseases (Huntington’s disease, fragile X syndrome, myotonic dystrophy) and uniparental disomy.
• Multifactorial and mitochondrial diseases and diseases (i.e congenital heart disease, schizophrenia and LHON hereditary optic neuropathy, respectively)
• Human genome program, linkage analysis, population genetics- Hardy-Weinberg equilibrium
• Epigenetics – DNA methylation, histone modifications and non-coding RNAs – and their role in genetic diseases and cancer
• Genetic basis of hemoglobinopathies, diagnosis, prevention and therapy
• Biochemical genetics: genetic basis of enzymopathies (eg alkaptonuria, PKU, G6PD deficiency, a1-antithrypsin deficiency, familiar hypercholesterolemia) as well as diagnosis, prevention and therapy
• Molecular Genetics: Genotype-Phenotype correlation, diagnosis, prevention and therapy of genetic diseases such as cystic fibrosis, osteogenesis imperfecta, collagen syndromes – Ehlers Danlos syndrome
• Cytogenetics: Aneuploidy and structural chromosomal abnormalities. Description of common genetic syndromes.

Prenatal diagnosis: emphasis in non- invasive prenatal testing (NIPT)

• Hematological malignancies (myelodysplastic syndromes, chronic myeloid leukemia ect): molecular and chromosomal abnormalities and targeted therapies
• Hereditary cancers (breast/ovarian cancer, colon cancer, etc), genetic basis, genetic basis, targeted therapies and genetic counseling
• Pharmacogenetics: genetic polymorphisms in metabolic enzymes (CYP2D6, CYP2C9), response to drugs (codeine, warfarin), enzymes of ethanol metabolism (ADH, ALDH), fetal alcohol syndrome. Polymorphisms/ Mutations and response to cancer therapy
• Gene therapy: viral and non-viral vectors for gene transfer, types of gene therapy, gene editing, stem cells: clinical trial in a1-antithrypsin deficiency, cystic fibrosis, Parkinson disease, AIDS and cancer
• Genetic counseling: principles of genetic counseling in genetic diseases and hereditary cancer

• Course notes
• Genetics, from genes to genomes Hartwell Leland, et al. [EUDOXOS 122091129]
• “Medical Genetics” by Thompson & Thompson [EYDOXOS 13256587]

Related Journals: 

Nature Genetics, Nature Reviews Genetics, Human Molecular Genetics, Trends in Genetics, Human Genetics, Clinical Genetics, Cancer Genetics and Cytogenetics