Course Coordinators: Z. Lygerou (Professor), V. Roukos (Assistant Professor)

The course aims to provide the necessary knowledge for understanding modern approaches in Medical Molecular Genetics and their applications in clinical practice. Graduate students will become familiar with relevant laboratory methodologies, receive training, and gain practical experience. The course also aims to develop students’ knowledge retrieval and oral presentation skills in the field of Medical Molecular Genetics.

Educational Objectives

• Knowledge Development: Provide comprehensive knowledge and cultivate evidence-based perceptions in medical molecular genetics, focusing on human molecular genetics, particularly the study of the relationship between the structure, organization, and expression of genetic material under normal and pathological conditions.
• Exposure to Core Theoretical and Methodological Approaches: Introduce fundamental theoretical and methodological approaches that underpin the development of modern applications in medical molecular genetics, diagnostics, medical genomics, and cytogenetics.
• Familiarization with Genetic Material Analysis: Train students in handling and analyzing genetic material, from nucleic acid molecules to chromosomal material observation and analysis.
• Training in Information Retrieval: Teach students how to extract and utilize information from advanced international genetic databases.
• Continuous Learning: Instill the understanding of the rapid advancements in the field and the necessity of lifelong self-education.

Course Content

• Genetic Basis of Common and Rare Diseases
• Human Genome
• Genetic Variability: Variations and disease associations
• Monogenic/Rare Hereditary Diseases: Risk estimation – Hardy-Weinberg equilibrium equation
• Trinucleotide Repeat Disorders, Mosaicism, Mitochondrial Diseases
• Genomic Analysis in Rare Disease Diagnosis
• Genetic Counseling
• Gene Therapy
• Cancer Genetics
• Hereditary Cancer Syndromes
• Introduction to the Genetics of Complex Traits/Multifactorial Diseases: Polygenic risk scores
• Molecular Epidemiology in Precision Medicine
• Special Topics in Molecular Epidemiology

Laboratory Training and Experience for Graduate Students

Graduate students specializing in “Medical Molecular Genetics” will undergo hands-on training and gain laboratory experience in various advanced technologies related to molecular and cellular biology, including gene expression analysis at the transcriptional and/or translational level, study of the mechanisms controlling genomic stability, and cell cycle regulation utilizing molecular or advanced microscopy approaches, in reverse genetics methodologies by studying cellular and/or animal model systems, in the analysis of basic biological mechanisms with omics technologies combined with specialized bioinformatics approaches, genetic composition correlations with phenotype using experimental and/or in silico analyses, etc.

Laboratory Techniques Covered

Students’ laboratory training includes a combination of the following techniques:
Human cell culture, Genetic modification of human cells – transient and stable transfection, viral systems (lentiviruses), Gene silencing/deletion – siRNA/CRISPR/degron, Training in microscopy (fluorescence microscopy, use of filters, lighting, fields, etc.), Confocal microscopy, High-throughput/time-lapse/functional microscopy, Image analysis, Nucleic acid isolation from human cells/biological materials, Use of restriction endonucleases, Advanced molecular cloning methodologies (Gibson assembly, Gateway/LR recombinase, PCR-based cloning), Gel electrophoresis (agarose, acrylamide, etc.) – DNA electrophoresis, Protein electrophoresis/Western blot, Immunofluorescence, Polymerase Chain Reaction (PCR), Allele-specific PCR, Real-time PCR, Fluorescence in situ hybridization (FISH), CUT&RUN/TAG or ChIP-Seq methodologies, DNA sequencing technologies (Sanger sequencing) and result interpretation, DNA sequencing technologies (Next-Generation Sequencing – NGS) and result interpretation, NGS data analysis.