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.

This course offers a comprehensive approach to the principles and applications of Medical Genetics. The curriculum focuses on the analysis of inheritance patterns in monogenic disorders, including deviations from Mendelian inheritance. Specific emphasis is placed on genetic imprinting, such as in Prader-Willi and Angelman syndromes, trinucleotide repeat expansions found in disorders like Huntington’s disease and fragile X syndrome, and cases of uniparental disomy. The course further explores the genetic basis of multifactorial and mitochondrial diseases, as well as chromosomal abnormalities involving both autosomal and sex chromosomes. An essential component of the course is the examination of epigenetic modifications of the genome, including DNA methylation, histone modifications, and small and long non-coding RNAs. Their role in disease development—particularly in malignancies—is thoroughly discussed, alongside emerging therapeutic applications based on these mechanisms.Significant attention is devoted to methods of genetic analysis and to the diagnosis, prevention, and treatment of major monogenic diseases such as cystic fibrosis, α- and β-thalassemias, phenylketonuria (PKU), G6PD deficiency, familial hypercholesterolemia, osteogenesis imperfecta, and a variety of chromosomal syndromes. The course also delves into recent advances in genetic repair and gene therapy, pharmacogenomics, and personalized medicine. In addition, it addresses the genetics of cancer and the principles of genetic counseling in the context of hereditary cancers, such as breast/ovarian and colorectal cancer. Bioethical dilemmas regarding medical genetics are also highlighted throughout the course. This course builds upon the knowledge acquired in Biology II – Molecular Biology by integrating heredity and molecular genetic mechanisms into a broader understanding of disease pathogenesis. The ultimate goal is to equip students with a complete framework for understanding the prevention, diagnosis, and treatment of genetic diseases, preparing them for clinical practice as future physicians. The course incorporates the most up-to-date scientific achievements in the field.

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:

• Genetics and Genomics in Medicine – The Human Genome
• Patterns of Inheritance of Monogenic Disorders
• Deviations from Mendelian Inheritance and Reference to Disorders:
  Genetic imprinting (e.g., Prader-Willi / Angelman syndromes),
  Trinucleotide repeat expansions (Huntington’s disease, fragile X syndrome, myotonic dystrophy),
  Uniparental disomy.
• Multifactorial and Mitochondrial Inheritance
• Epigenetics:
  The role of DNA methylation, histone modifications, and small/long non-coding RNAs in genetic diseases and cancer.
• Genetic Basis of Hemoglobinopathies – Diagnosis, Prevention, and Therapeutic Approaches
• Biochemical Genetics:
  The genetic basis of enzymopathies (e.g., alkaptonuria, phenylketonuria (PKU), G6PD deficiency, α1-antitrypsin deficiency),
  Familial hypercholesterolemia – Diagnosis, prevention, and therapeutic strategies.
• Molecular Genetics:
  Genotype–phenotype correlation, diagnosis, prevention, and treatment of genetic diseases such as cystic fibrosis, osteogenesis imperfecta, Ehlers-Danlos syndrome.
• Cytogenetics:
  Numerical and structural chromosomal abnormalities, genetic syndromes, disorders of autosomes and sex chromosomes.
• Genetics of Hematologic Malignancies (e.g., myelodysplastic syndromes, chronic myelogenous leukemia):
  Cytogenetic abnormalities, molecular defects, and targeted therapies.
• Hereditary Cancers (e.g., multiple endocrine neoplasia syndromes, breast/ovarian cancer, colorectal cancer):
  Genetic mutations, the role of specific genes, and genetic counseling.
• Prenatal Diagnosis:
  Methods and techniques of invasive and non-invasive prenatal testing.
• Mapping and Identification of Disease-Associated Genes:
  Haplotype Map (HapMap) and Genome- and Epigenome-Wide Association Studies (GWAS & EWAS).
• Pharmacogenetics and Personalized Medicine:
  Genetic polymorphisms in metabolic enzymes (e.g., CYP2D6, CYP2C9) and drug response (e.g., codeine, warfarin);
  Enzymes involved in ethanol metabolism (ADH, ALDH) and alcohol response;
  Polymorphisms/mutations in genes and therapy response in cancer.
• Gene Therapy:
  Viral and non-viral vectors for gene delivery, types of gene therapy, genome editing, stem cells;
  Clinical trials in α1-antitrypsin deficiency, cystic fibrosis, Parkinson’s disease, AIDS, cancer.
• Genetic Counseling:

Basic principles, counseling in genetic disorders and hereditary cancers.

• Course notes
• “Medical Genetics” by Thompson & Thompson [EYDOXOS 13256587]
• ” Medical Genetics ” by Jorde Lynn B., Carey John C., Bamshad Michael J. [EUDOXOS 112691110]

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